Q9Y606 · PUS1_HUMAN
- ProteinPseudouridylate synthase 1 homolog
- GenePUS1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids427 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1890494192 | 2 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.131929727G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929727G>A Locations: - p.Gly2Asp (Ensembl:ENST00000376649) - c.5G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs755593231 | 3 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000012.12:g.131929729C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929729C>T Locations: - p.Leu3Phe (Ensembl:ENST00000376649) - c.7C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs765769556 | 3 | L>H | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.874) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.131929730T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929730T>A Locations: - p.Leu3His (Ensembl:ENST00000376649) - c.8T>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
RCV001907371 rs2136428332 | 4 | Q>* | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.131929732C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929732C>T Locations: - p.Gln4Ter (Ensembl:ENST00000376649) - c.10C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs754814461 | 4 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000012.12:g.131929734G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929734G>T Locations: - p.Gln4His (Ensembl:ENST00000376649) - c.12G>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs753840079 | 4 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.69) Somatic: No Accession: NC_000012.12:g.131929733A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929733A>G Locations: - p.Gln4Arg (Ensembl:ENST00000376649) - c.11A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1445321741 | 5 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.131929736T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929736T>C Locations: - p.Leu5Pro (Ensembl:ENST00000376649) - c.14T>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59035736 rs587781135 rs587781135,COSV59035736 | 6 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) - PolyPhen: benign (0.022) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.131929738C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929738C>T Locations: - p.R6C (NCI-TCGA:ENST00000376649) - p.Arg6Cys (Ensembl:ENST00000376649) - c.16C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs778774303 | 7 | A>E | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000012.12:g.131929742C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929742C>A Locations: - p.Ala7Glu (Ensembl:ENST00000376649) - c.20C>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs778774303 | 7 | A>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.46) Somatic: No Accession: NC_000012.12:g.131929742C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929742C>T Locations: - p.Ala7Val (Ensembl:ENST00000376649) - c.20C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs144200090 | 8 | L>P | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000012.12:g.131929745T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929745T>C Locations: - p.Leu8Pro (Ensembl:ENST00000376649) - c.23T>C (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1890495881 | 10 | G>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.76) Somatic: No Accession: NC_000012.12:g.131929751G>C Codon: GGA/GCA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929751G>C Locations: - p.Gly10Ala (Ensembl:ENST00000376649) - c.29G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1346710486 | 11 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.131929753G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929753G>A Locations: - p.Ala11Thr (Ensembl:ENST00000376649) - c.31G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs2136428390 | 11 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000012.12:g.131929754C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929754C>T Locations: - p.Ala11Val (Ensembl:ENST00000376649) - c.32C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1210731832 | 13 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000012.12:g.131929760G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929760G>A Locations: - p.Gly13Glu (Ensembl:ENST00000376649) - c.38G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1334295946 | 13 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000012.12:g.131929759G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929759G>A Locations: - p.Gly13Arg (Ensembl:ENST00000376649) - c.37G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
RCV001561682 RCV001836447 rs146103500 | 14 | R>Q | Myopathy, lactic acidosis, and sideroblastic anemia (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.59) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000012.12:g.131929763G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929763G>A Locations: - p.Arg14Gln (Ensembl:ENST00000376649) - c.41G>A (Ensembl:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia Source type: large scale study Cross-references: | |||||||
RCV001953206 RCV002283570 RCV003401940 rs895175332 | 15 | W>* | Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) PUS1-related disorder (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.131929767G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929767G>A Locations: - p.Trp15Ter (Ensembl:ENST00000376649) - c.45G>A (Ensembl:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) - PUS1-related disorder Source type: large scale study Cross-references: | |||||||
rs1360544410 | 15 | W>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.47) Somatic: No Accession: NC_000012.12:g.131929765T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929765T>C Locations: - p.Trp15Arg (Ensembl:ENST00000376649) - c.43T>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1010852361 | 16 | T>I | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000012.12:g.131929769C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929769C>T Locations: - p.Thr16Ile (Ensembl:ENST00000376649) - c.47C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs747124823 | 17 | L>V | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000012.12:g.131929771C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929771C>G Locations: - p.Leu17Val (Ensembl:ENST00000376649) - c.49C>G (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1890497787 | 18 | R>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000012.12:g.131929775G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929775G>A Locations: - p.Arg18His (Ensembl:ENST00000376649) - c.53G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1890497787 | 18 | R>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000012.12:g.131929775G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929775G>C Locations: - p.Arg18Pro (Ensembl:ENST00000376649) - c.53G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs866298268 | 20 | G>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.131929780G>T Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929780G>T Locations: - p.Gly20Ter (Ensembl:ENST00000376649) - c.58G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1212394239 | 20 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000012.12:g.131929781G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929781G>A Locations: - p.Gly20Glu (Ensembl:ENST00000376649) - c.59G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs866298268 | 20 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000012.12:g.131929780G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929780G>A Locations: - p.Gly20Arg (Ensembl:ENST00000376649) - c.58G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1212394239 | 20 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000012.12:g.131929781G>T Codon: GGA/GTA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929781G>T Locations: - p.Gly20Val (Ensembl:ENST00000376649) - c.59G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1890498636 | 21 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.82) Somatic: No Accession: NC_000012.12:g.131929784C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929784C>T Locations: - p.Pro21Leu (Ensembl:ENST00000376649) - c.62C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
RCV001892571 rs776524302 | 22 | R>H | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Population frequencies: - MAF: 0.00016 (ClinVar) Accession: NC_000012.12:g.131929787G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929787G>A Locations: - p.Arg22His (Ensembl:ENST00000376649) - c.65G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs746395752 | 23 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.68) Somatic: No Accession: NC_000012.12:g.131929790C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929790C>T Locations: - p.Pro23Leu (Ensembl:ENST00000376649) - c.68C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs746395752 | 23 | P>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.33) Somatic: No Accession: NC_000012.12:g.131929790C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929790C>A Locations: - p.Pro23Gln (Ensembl:ENST00000376649) - c.68C>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs746395752 | 23 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.39) Somatic: No Accession: NC_000012.12:g.131929790C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929790C>G Locations: - p.Pro23Arg (Ensembl:ENST00000376649) - c.68C>G (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1890499440 | 24 | S>C | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000012.12:g.131929793C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929793C>G Locations: - p.Ser24Cys (Ensembl:ENST00000376649) - c.71C>G (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1890499440 | 24 | S>F | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000012.12:g.131929793C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929793C>T Locations: - p.Ser24Phe (Ensembl:ENST00000376649) - c.71C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1478680931 | 25 | C>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.89) Somatic: No Accession: NC_000012.12:g.131929796G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929796G>A Locations: - p.Cys25Tyr (Ensembl:ENST00000376649) - c.74G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1355854542 | 26 | S>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.34) Somatic: No Accession: NC_000012.12:g.131929909C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929909C>T Locations: - p.Ser26Leu (Ensembl:ENST00000376649) - c.77C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs910966992 | 27 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000012.12:g.131929911C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929911C>T Locations: - p.Pro27Ser (Ensembl:ENST00000376649) - c.79C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1268027320 | 28 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000012.12:g.131929914C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929914C>T Locations: - p.Arg28Cys (Ensembl:ENST00000376649) - c.82C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1363171458 | 28 | R>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.22) Somatic: No Accession: NC_000012.12:g.131929915G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929915G>A Locations: - p.Arg28His (Ensembl:ENST00000376649) - c.83G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1363171458 | 28 | R>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.42) Somatic: No Accession: NC_000012.12:g.131929915G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929915G>T Locations: - p.Arg28Leu (Ensembl:ENST00000376649) - c.83G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1406747461 | 30 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000012.12:g.131929921C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929921C>T Locations: - p.Ala30Val (Ensembl:ENST00000376649) - c.89C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1303802812 | 31 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.28) Somatic: No Accession: NC_000012.12:g.131929924G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929924G>A Locations: - p.Gly31Glu (Ensembl:ENST00000376649) - c.92G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1162326833 | 31 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000012.12:g.131929923G>C Codon: GGG/CGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929923G>C Locations: - p.Gly31Arg (Ensembl:ENST00000376649) - c.91G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV105226087 rs1593286227 | 32 | N>D | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.33) Somatic: Yes Accession: NC_000012.12:g.131929926A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929926A>G Locations: - p.Asn32Asp (Ensembl:ENST00000376649) - c.94A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1593286235 | 32 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000012.12:g.131929927A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929927A>G Locations: - p.Asn32Ser (Ensembl:ENST00000376649) - c.95A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1391918656 | 35 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000012.12:g.131929936C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929936C>T Locations: - p.Pro35Leu (Ensembl:ENST00000376649) - c.104C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1391918656 | 35 | P>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000012.12:g.131929936C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929936C>A Locations: - p.Pro35Gln (Ensembl:ENST00000376649) - c.104C>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs561744467 | 37 | P>L | Benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000012.12:g.131929942C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929942C>T Locations: - p.Pro37Leu (Ensembl:ENST00000376649) - c.110C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV105894344 RCV000941641 RCV001274955 rs561744467 | 37 | P>R | Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) | Benign (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.19) Somatic: Yes Population frequencies: - MAF: 0.0022 (ClinVar) Accession: NC_000012.12:g.131929942C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929942C>G Locations: - p.Pro37Arg (Ensembl:ENST00000376649) - c.110C>G (Ensembl:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study | |||||||
rs774641249 | 38 | A>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000012.12:g.131929945C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929945C>A Locations: - p.Ala38Asp (Ensembl:ENST00000376649) - c.113C>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs769032481 | 38 | A>T | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000012.12:g.131929944G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929944G>A Locations: - p.Ala38Thr (Ensembl:ENST00000376649) - c.112G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs774641249 | 38 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000012.12:g.131929945C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929945C>T Locations: - p.Ala38Val (Ensembl:ENST00000376649) - c.113C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs199950927 | 39 | G>A | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000012.12:g.131929948G>C Codon: GGA/GCA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929948G>C Locations: - p.Gly39Ala (Ensembl:ENST00000376649) - c.116G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs199950927 | 39 | G>E | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.8) Somatic: No Accession: NC_000012.12:g.131929948G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929948G>A Locations: - p.Gly39Glu (Ensembl:ENST00000376649) - c.116G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs760384342 | 39 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000012.12:g.131929947G>A, NC_000012.12:g.131929947G>C Codon: GGA/AGA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929947G>A, NC_000012.12:g.131929947G>C Locations: - p.Gly39Arg (Ensembl:ENST00000376649) - c.115G>A (Ensembl:ENST00000376649) - c.115G>C (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs2136429017 | 40 | A>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000012.12:g.131929951C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929951C>G Locations: - p.Ala40Gly (Ensembl:ENST00000376649) - c.119C>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs776265402 | 41 | A>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000012.12:g.131929953G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929953G>T Locations: - p.Ala41Ser (Ensembl:ENST00000376649) - c.121G>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs776265402 | 41 | A>T | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000012.12:g.131929953G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929953G>A Locations: - p.Ala41Thr (Ensembl:ENST00000376649) - c.121G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1326220015 | 41 | A>V | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000012.12:g.131929954C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929954C>T Locations: - p.Ala41Val (Ensembl:ENST00000376649) - c.122C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs758949898 | 42 | C>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000012.12:g.131929957G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929957G>T Locations: - p.Cys42Phe (Ensembl:ENST00000376649) - c.125G>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs758949898 | 42 | C>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000012.12:g.131929957G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929957G>A Locations: - p.Cys42Tyr (Ensembl:ENST00000376649) - c.125G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1343233524 | 43 | P>H | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.131929960C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929960C>A Locations: - p.Pro43His (Ensembl:ENST00000376649) - c.128C>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
RCV001658757 RCV001827563 RCV002282569 RCV002539612 rs928144275 | 43 | P>S | Myopathy, lactic acidosis, and sideroblastic anemia (ClinVar) Inborn genetic diseases (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.36) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000012.12:g.131929959C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929959C>T Locations: - p.Pro43Ser (Ensembl:ENST00000376649) - c.127C>T (Ensembl:ENST00000376649) Disease association: - Inborn genetic diseases - Myopathy, lactic acidosis, and sideroblastic anemia Source type: large scale study | |||||||
TCGA novel | 44 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000012.12:g.131929964G>T Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929964G>T Locations: - c.132G>T (NCI-TCGA:ENST00000376649) - p.Q44H (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1890514740 | 45 | D>G | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000012.12:g.131929966A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929966A>G Locations: - p.Asp45Gly (Ensembl:ENST00000376649) - c.134A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1593286306 | 45 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000012.12:g.131929965G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929965G>A Locations: - p.Asp45Asn (Ensembl:ENST00000376649) - c.133G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1890514740 | 45 | D>V | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000012.12:g.131929966A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929966A>T Locations: - p.Asp45Val (Ensembl:ENST00000376649) - c.134A>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs765257355 | 46 | R>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000012.12:g.131929968C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929968C>G Locations: - p.Arg46Gly (Ensembl:ENST00000376649) - c.136C>G (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs752709725 | 46 | R>P | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.209) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.131929969G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929969G>C Locations: - p.Arg46Pro (Ensembl:ENST00000376649) - c.137G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs752709725 | 46 | R>Q | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000012.12:g.131929969G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929969G>A Locations: - p.Arg46Gln (Ensembl:ENST00000376649) - c.137G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
CA319955 RCV000195596 RCV001274956 rs765257355 | 46 | R>W | Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.634) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00005 (ClinVar) Accession: NC_000012.12:g.131929968C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929968C>T Locations: - p.Arg46Trp (Ensembl:ENST00000376649) - c.136C>T (Ensembl:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study | |||||||
rs2136429099 | 47 | R>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.14) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.131929972G>T Codon: AGG/ATG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929972G>T Locations: - p.Arg47Met (Ensembl:ENST00000376649) - c.140G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1380697238 | 48 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000012.12:g.131929975C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929975C>T Locations: - p.Ser48Phe (Ensembl:ENST00000376649) - c.143C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs2136429116 | 48 | S>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000012.12:g.131929974T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929974T>A Locations: - p.Ser48Thr (Ensembl:ENST00000376649) - c.142T>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1372393655 | 50 | S>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000012.12:g.131929980A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929980A>G Locations: - p.Ser50Gly (Ensembl:ENST00000376649) - c.148A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs958305870 | 51 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.114) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000012.12:g.131929984G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929984G>A Locations: - p.Gly51Asp (Ensembl:ENST00000376649) - c.152G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1245257533 | 51 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000012.12:g.131929983G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929983G>A Locations: - p.Gly51Ser (Ensembl:ENST00000376649) - c.151G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs958305870 | 51 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.083) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.131929984G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929984G>T Locations: - p.Gly51Val (Ensembl:ENST00000376649) - c.152G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1461363494 | 52 | R>L | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000012.12:g.131929987G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929987G>T Locations: - p.Arg52Leu (Ensembl:ENST00000376649) - c.155G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1461363494 | 52 | R>Q | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000012.12:g.131929987G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929987G>A Locations: - p.Arg52Gln (Ensembl:ENST00000376649) - c.155G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs2136429163 | 52 | R>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000012.12:g.131929986C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929986C>T Locations: - p.Arg52Trp (Ensembl:ENST00000376649) - c.154C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs773571665 | 53 | A>T | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000012.12:g.131929989G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929989G>A Locations: - p.Ala53Thr (Ensembl:ENST00000376649) - c.157G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs751332234 | 53 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000012.12:g.131929990C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929990C>T Locations: - p.Ala53Val (Ensembl:ENST00000376649) - c.158C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs750562665 | 54 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated - low confidence (0.61) - PolyPhen: benign (0.036) - SIFT: tolerated (0.49) Somatic: No Population frequencies: - MAF: 0.00002452 (gnomAD) Accession: NC_000012.12:g.131929992G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929992G>A Locations: - p.G54R (NCI-TCGA:ENST00000376649) - p.Gly54Arg (Ensembl:ENST00000376649) - c.160G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs750562665 | 54 | G>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.254) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131929992G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929992G>T Locations: - p.Gly54Trp (Ensembl:ENST00000376649) - c.160G>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs756181706 | 55 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000012.12:g.131929996G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929996G>T Locations: - p.Gly55Val (Ensembl:ENST00000376649) - c.164G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs769085511 | 56 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000012.12:g.131929998G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131929998G>C Locations: - p.Asp56His (Ensembl:ENST00000376649) - c.166G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1890517028 | 57 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.328) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131930001C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930001C>T Locations: - p.Arg57Cys (Ensembl:ENST00000376649) - c.169C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1890517215 | 57 | R>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.131930002G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930002G>T Locations: - p.Arg57Leu (Ensembl:ENST00000376649) - c.170G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1890517028 | 57 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000012.12:g.131930001C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930001C>A Locations: - p.Arg57Ser (Ensembl:ENST00000376649) - c.169C>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1290107500 | 58 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000012.12:g.131930004G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930004G>A Locations: - p.Val58Ile (Ensembl:ENST00000376649) - c.172G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
TCGA novel | 60 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.301) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000012.12:g.131930010G>A Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930010G>A Locations: - c.178G>A (NCI-TCGA:ENST00000376649) - p.E60K (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1483413278 | 61 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.477) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131930013G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930013G>C Locations: - p.Asp61His (Ensembl:ENST00000376649) - c.181G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1483413278 | 61 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000012.12:g.131930013G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930013G>A Locations: - p.Asp61Asn (Ensembl:ENST00000376649) - c.181G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
CA321900 RCV000197433 rs863224174 | 62 | G>E | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.17) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000012.12:g.131930017G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930017G>A Locations: - p.Gly62Glu (Ensembl:ENST00000376649) - c.185G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs966727626 | 62 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000012.12:g.131930016G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930016G>A Locations: - p.Gly62Arg (Ensembl:ENST00000376649) - c.184G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
CA322126 RCV000197669 RCV001274957 rs770669291 | 64 | H>Y | Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: tolerated (0.17) Somatic: No Population frequencies: - MAF: 0.00007 (ClinVar) Accession: NC_000012.12:g.131930022C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930022C>T Locations: - p.His64Tyr (Ensembl:ENST00000376649) - c.190C>T (Ensembl:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study | |||||||
rs2136429314 | 65 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000012.12:g.131930026C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930026C>T Locations: - p.Pro65Leu (Ensembl:ENST00000376649) - c.194C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs776118682 | 65 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000012.12:g.131930025C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930025C>T Locations: - p.Pro65Ser (Ensembl:ENST00000376649) - c.193C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs759184818 | 66 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000012.12:g.131930028G>C Codon: GCG/CCG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930028G>C Locations: - p.Ala66Pro (Ensembl:ENST00000376649) - c.196G>C (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs759184818 | 66 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000012.12:g.131930028G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930028G>T Locations: - p.Ala66Ser (Ensembl:ENST00000376649) - c.196G>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs759184818 | 66 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000012.12:g.131930028G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930028G>A Locations: - p.Ala66Thr (Ensembl:ENST00000376649) - c.196G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1341037097 | 69 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.559) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000012.12:g.131930038T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930038T>C Locations: - p.Leu69Pro (Ensembl:ENST00000376649) - c.206T>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1351804209 | 70 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.531) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000012.12:g.131930040A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930040A>G Locations: - p.Lys70Glu (Ensembl:ENST00000376649) - c.208A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs751427304 | 70 | K>N | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.726) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131930042G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930042G>C Locations: - p.Lys70Asn (Ensembl:ENST00000376649) - c.210G>C (Ensembl:ENST00000376649) Source type: large scale study | |||||||
TCGA novel | 70 | K>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000012.12:g.131930041A>G Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930041A>G Locations: - c.209A>G (NCI-TCGA:ENST00000376649) - p.K70R (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs760487019 | 71 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.151) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000012.12:g.131930044G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930044G>A Locations: - p.Ser71Asn (Ensembl:ENST00000376649) - c.212G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs760487019 | 71 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.71) Somatic: No Accession: NC_000012.12:g.131930044G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930044G>C Locations: - p.Ser71Thr (Ensembl:ENST00000376649) - c.212G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs201886236 | 72 | G>A | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000012.12:g.131930047G>C Codon: GGT/GCT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930047G>C Locations: - p.Gly72Ala (Ensembl:ENST00000376649) - c.215G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs201886236 | 72 | G>D | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000012.12:g.131930047G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930047G>A Locations: - p.Gly72Asp (Ensembl:ENST00000376649) - c.215G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs750634830 | 72 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000012.12:g.131930046G>C Codon: GGT/CGT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930046G>C Locations: - p.Gly72Arg (Ensembl:ENST00000376649) - c.214G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs750634830 | 72 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000012.12:g.131930046G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930046G>A Locations: - p.Gly72Ser (Ensembl:ENST00000376649) - c.214G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
CA321775 RCV000197320 RCV002517251 RCV004020416 rs755540245 | 73 | G>D | Inborn genetic diseases (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.49) Somatic: No Population frequencies: - MAF: 0.00005 (ClinVar) Accession: NC_000012.12:g.131930050G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930050G>A Locations: - p.Gly73Asp (Ensembl:ENST00000376649) - c.218G>A (Ensembl:ENST00000376649) Disease association: - Inborn genetic diseases Source type: large scale study | |||||||
rs753915002 | 73 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000012.12:g.131930049G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930049G>A Locations: - p.Gly73Ser (Ensembl:ENST00000376649) - c.217G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs779372885 | 74 | D>E | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.69) Somatic: No Accession: NC_000012.12:g.131930054C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930054C>G Locations: - p.Asp74Glu (Ensembl:ENST00000376649) - c.222C>G (Ensembl:ENST00000376649) Source type: large scale study | |||||||
COSV100435294 | 74 | D>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000012.12:g.131930053A>G Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930053A>G Locations: - c.221A>G (NCI-TCGA:ENST00000376649) - p.D74G (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1890524580 | 75 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000012.12:g.131930056A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930056A>G Locations: - p.Glu75Gly (Ensembl:ENST00000376649) - c.224A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1890524431 | 75 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000012.12:g.131930055G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930055G>A Locations: - p.Glu75Lys (Ensembl:ENST00000376649) - c.223G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
RCV001047829 rs1890524790 | 75-76 | EE>D* | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.131930057_131930058delinsTT Codon: GAGGAG/GATTAG Consequence type: stop gained Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930057_131930058delinsTT Locations: - p.Glu75_Glu76delinsAspTer (Ensembl:ENST00000376649) - c.225_226delinsTT (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs748588884 | 76 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000012.12:g.131930058G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930058G>A Locations: - p.Glu76Lys (Ensembl:ENST00000376649) - c.226G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1468033121 | 77 | R>G | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000012.12:g.131930061C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930061C>G Locations: - p.Arg77Gly (Ensembl:ENST00000376649) - c.229C>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs11554175 | 77 | R>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000012.12:g.131930062G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930062G>T Locations: - p.Arg77Leu (Ensembl:ENST00000376649) - c.230G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs11554175 | 77 | R>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.97) Somatic: No Accession: NC_000012.12:g.131930062G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930062G>A Locations: - p.Arg77Gln (Ensembl:ENST00000376649) - c.230G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs745516363 | 78 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000012.12:g.131930064C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930064C>G Locations: - p.Arg78Gly (Ensembl:ENST00000376649) - c.232C>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs769500095 | 78 | R>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000012.12:g.131930065G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930065G>A Locations: - p.Arg78His (Ensembl:ENST00000376649) - c.233G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs775206847 | 79 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000012.12:g.131930067G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930067G>A Locations: - p.Glu79Lys (Ensembl:ENST00000376649) - c.235G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs748792895 | 81 | P>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.93) Somatic: No Accession: NC_000012.12:g.131930074C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930074C>T Locations: - p.Pro81Leu (Ensembl:ENST00000376649) - c.242C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs748792895 | 81 | P>Q | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.067) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000012.12:g.131930074C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930074C>A Locations: - p.Pro81Gln (Ensembl:ENST00000376649) - c.242C>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs2136429463 | 81 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000012.12:g.131930073C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930073C>T Locations: - p.Pro81Ser (Ensembl:ENST00000376649) - c.241C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs768762075 | 82 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.449) - SIFT: deleterious (0.01) - PolyPhen: possibly damaging (0.46) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.00001613 (gnomAD) Accession: NC_000012.12:g.131930076C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930076C>T Locations: - p.P82S (NCI-TCGA:ENST00000376649) - p.Pro82Ser (Ensembl:ENST00000376649) - c.244C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1339710431 | 84 | R>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.131930082C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930082C>T Locations: - p.Arg84Trp (Ensembl:ENST00000376649) - c.250C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1566139531 | 85 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.75) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131930086A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930086A>G Locations: - p.Lys85Arg (Ensembl:ENST00000376649) - c.254A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1890529298 | 86 | I>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131930089T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930089T>A Locations: - p.Ile86Asn (Ensembl:ENST00000376649) - c.257T>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs761763887 | 88 | L>V | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.687) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.131930094C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930094C>G Locations: - p.Leu88Val (Ensembl:ENST00000376649) - c.262C>G (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs772993946 | 90 | M>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.93) Somatic: No Accession: NC_000012.12:g.131930100A>C, NC_000012.12:g.131930100A>T Codon: ATG/CTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930100A>C, NC_000012.12:g.131930100A>T Locations: - p.Met90Leu (Ensembl:ENST00000376649) - c.268A>C (Ensembl:ENST00000376649) - c.268A>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1890530186 | 90 | M>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.501) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131930101T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930101T>C Locations: - p.Met90Thr (Ensembl:ENST00000376649) - c.269T>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1890530325 | 91 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.928) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131930103G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930103G>A Locations: - p.Ala91Thr (Ensembl:ENST00000376649) - c.271G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs760954320 | 91 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.455) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000012.12:g.131930104C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930104C>T Locations: - p.Ala91Val (Ensembl:ENST00000376649) - c.272C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs770872085 | 92 | Y>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.131930108T>G Codon: TAT/TAG Consequence type: stop gained Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930108T>G Locations: - p.Tyr92Ter (Ensembl:ENST00000376649) - c.276T>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs766578830 | 92 | Y>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131930107A>T Codon: TAT/TTT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930107A>T Locations: - p.Tyr92Phe (Ensembl:ENST00000376649) - c.275A>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs2136429544 | 92 | Y>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131930106T>A Codon: TAT/AAT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930106T>A Locations: - p.Tyr92Asn (Ensembl:ENST00000376649) - c.274T>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1890531041 | 93 | S>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131930110C>G Codon: TCG/TGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930110C>G Locations: - p.Ser93Trp (Ensembl:ENST00000376649) - c.278C>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1483951211 | 94 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131930113G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930113G>A Locations: - p.Gly94Asp (Ensembl:ENST00000376649) - c.281G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1483951211 | 94 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131930113G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930113G>T Locations: - p.Gly94Val (Ensembl:ENST00000376649) - c.281G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
RCV001111872 RCV002556180 rs143828069 | 96 | G>D | Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.545) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000012.12:g.131930119G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930119G>A Locations: - p.Gly96Asp (Ensembl:ENST00000376649) - c.287G>A (Ensembl:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study | |||||||
rs1890532082 | 98 | H>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.89) Somatic: No Accession: NC_000012.12:g.131930124C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930124C>T Locations: - p.His98Tyr (Ensembl:ENST00000376649) - c.292C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs868582827 | 99 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131930128G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930128G>A Locations: - p.Gly99Asp (Ensembl:ENST00000376649) - c.296G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1890532347 | 99 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131930127G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930127G>A Locations: - p.Gly99Ser (Ensembl:ENST00000376649) - c.295G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs765322789 | 100 | M>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131930131T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930131T>A Locations: - p.Met100Lys (Ensembl:ENST00000376649) - c.299T>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs765322789 | 100 | M>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131930131T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930131T>G Locations: - p.Met100Arg (Ensembl:ENST00000376649) - c.299T>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
RCV001246289 rs1048018914 | 101 | Q>* | Pathogenic (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000012.12:g.131930133C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930133C>T Locations: - p.Gln101Ter (Ensembl:ENST00000376649) - c.301C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
VAR_086155 rs753164046 | 101 | Q>R | MLASA1; uncertain significance (UniProt) | Variant of uncertain significance (UniProt) | UniProt ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000012.12:g.131930134A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131930134A>G Locations: - p.Gln101Arg (UniProt:Q9Y606) Disease association: - Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) Source type: mixed Cross-references: | |||||||
rs1890631077 | 103 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131932179A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932179A>G Locations: - p.Asn103Ser (Ensembl:ENST00000376649) - c.308A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1334900934 | 104 | V>D | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.217) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000012.12:g.131932182T>A Codon: GTC/GAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932182T>A Locations: - p.Val104Asp (Ensembl:ENST00000376649) - c.311T>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs764547759 | 105 | G>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.894) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.131932185G>C Codon: GGG/GCG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932185G>C Locations: - p.Gly105Ala (Ensembl:ENST00000376649) - c.314G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs763065931 | 105 | G>R | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.34) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.131932184G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932184G>A Locations: - p.Gly105Arg (Ensembl:ENST00000376649) - c.313G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1593288596 | 106 | S>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.502) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000012.12:g.131932187T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932187T>G Locations: - p.Ser106Ala (Ensembl:ENST00000376649) - c.316T>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59036298 rs1890631828 | 106 | S>F | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131932188C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932188C>T Locations: - p.Ser106Phe (Ensembl:ENST00000376649) - c.317C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1890632161 | 108 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.131932193C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932193C>T Locations: - p.Gln108Ter (Ensembl:ENST00000376649) - c.322C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
TCGA novel | 108 | Q>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000012.12:g.131932193C>A Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932193C>A Locations: - c.322C>A (NCI-TCGA:ENST00000376649) - p.Q108K (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs762359807 | 110 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.208) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.131932199A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932199A>G Locations: - p.Lys110Glu (Ensembl:ENST00000376649) - c.328A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1478631298 | 111 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131932202A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932202A>G Locations: - p.Thr111Ala (Ensembl:ENST00000376649) - c.331A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1287386095 | 112 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.893) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131932205A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932205A>G Locations: - p.Ile112Val (Ensembl:ENST00000376649) - c.334A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs750814179 | 114 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000012.12:g.131932213T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932213T>G Locations: - p.Asp114Glu (Ensembl:ENST00000376649) - c.342T>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs768000451 | 114 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.131932212A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932212A>G Locations: - p.Asp114Gly (Ensembl:ENST00000376649) - c.341A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1242866089 | 114 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.904) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.131932211G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932211G>A Locations: - p.Asp114Asn (Ensembl:ENST00000376649) - c.340G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1352002560 | 115 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.893) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131932214G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932214G>A Locations: - p.Asp115Asn (Ensembl:ENST00000376649) - c.343G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1352002560 | 115 | D>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.422) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131932214G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932214G>T Locations: - p.Asp115Tyr (Ensembl:ENST00000376649) - c.343G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs149011160 | 116 | L>M | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131932217T>A Codon: TTG/ATG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932217T>A Locations: - p.Leu116Met (Ensembl:ENST00000376649) - c.346T>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs752193182 | 116 | L>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131932218T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932218T>C Locations: - p.Leu116Ser (Ensembl:ENST00000376649) - c.347T>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs149011160 | 116 | L>V | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131932217T>G Codon: TTG/GTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932217T>G Locations: - p.Leu116Val (Ensembl:ENST00000376649) - c.346T>G (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1228571078 | 117 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.765) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.131932221T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932221T>C Locations: - p.Val117Ala (Ensembl:ENST00000376649) - c.350T>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs372191433 | 118 | S>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.742) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.131932223T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932223T>C Locations: - p.Ser118Pro (Ensembl:ENST00000376649) - c.352T>C (Ensembl:ENST00000376649) Source type: large scale study | |||||||
COSV59036228 | 119 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131932227C>A Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932227C>A Locations: - c.356C>A (NCI-TCGA:ENST00000376649) - p.A119D (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59036252 rs770785029 | 121 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.18) - PolyPhen: benign (0.038) - SIFT: tolerated (0.24) Somatic: Yes Population frequencies: - MAF: 0.000007956 (gnomAD) Accession: NC_000012.12:g.131932232G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932232G>A Locations: - p.V121I (NCI-TCGA:ENST00000376649) - p.Val121Ile (Ensembl:ENST00000376649) - c.361G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs142954643 | 122 | R>G | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.131932235C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932235C>G Locations: - p.Arg122Gly (Ensembl:ENST00000376649) - c.364C>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
RCV001112334 RCV002558120 RCV003163261 rs199863621 | 122 | R>Q | Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) Inborn genetic diseases (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.37) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000012.12:g.131932236G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932236G>A Locations: - p.Arg122Gln (Ensembl:ENST00000376649) - c.365G>A (Ensembl:ENST00000376649) Disease association: - Inborn genetic diseases - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study | |||||||
rs142954643 | 122 | R>W | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.846) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131932235C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932235C>T Locations: - p.Arg122Trp (Ensembl:ENST00000376649) - c.364C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs763044473 | 124 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131932241G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932241G>A Locations: - p.Gly124Ser (Ensembl:ENST00000376649) - c.370G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs768802173 | 124 | G>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131932242G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932242G>T Locations: - p.Gly124Val (Ensembl:ENST00000376649) - c.371G>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1215793177 | 126 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131932249T>G Codon: ATT/ATG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932249T>G Locations: - p.Ile126Met (Ensembl:ENST00000376649) - c.378T>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs745620984 | 126 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000012.12:g.131932247A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932247A>G Locations: - p.Ile126Val (Ensembl:ENST00000376649) - c.376A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1424686895 | 128 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.23) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000012.12:g.131932253G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932253G>A Locations: - p.Glu128Lys (Ensembl:ENST00000376649) - c.382G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1416215558 | 129 | N>K | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.224) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131932258T>A Codon: AAT/AAA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932258T>A Locations: - p.Asn129Lys (Ensembl:ENST00000376649) - c.387T>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs764527783 | 129 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000012.12:g.131932257A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932257A>G Locations: - p.Asn129Ser (Ensembl:ENST00000376649) - c.386A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs201691654 | 130 | H>D | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.384) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131932259C>G Codon: CAT/GAT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932259C>G Locations: - p.His130Asp (Ensembl:ENST00000376649) - c.388C>G (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs201691654 | 130 | H>Y | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000012.12:g.131932259C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932259C>T Locations: - p.His130Tyr (Ensembl:ENST00000376649) - c.388C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1890637441 | 132 | E>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.421) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000012.12:g.131932266A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932266A>C Locations: - p.Glu132Ala (Ensembl:ENST00000376649) - c.395A>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs761073254 | 132 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.104) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000012.12:g.131932265G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932265G>A Locations: - p.Glu132Lys (Ensembl:ENST00000376649) - c.394G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
VAR_036447 CA293008 COSV59035695 RCV000127673 RCV001000490 RCV001274802 RCV001518956 RCV003925262 rs76655496 | 133 | D>N | Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) Inborn mitochondrial myopathy (ClinVar) PUS1-related disorder (ClinVar) | Benign (Ensembl, ClinVar) | UniProt ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.03115 (ClinVar) Accession: NC_000012.12:g.131932268G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932268G>A Locations: - p.Asp133Asn (UniProt:Q9Y606) Disease association: - Inborn mitochondrial myopathy - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) - PUS1-related disorder Source type: mixed Cross-references: | |||||||
rs76655496 | 133 | D>Y | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.826) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131932268G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932268G>T Locations: - p.Asp133Tyr (Ensembl:ENST00000376649) - c.397G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs752418580 | 134 | M>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.119) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000012.12:g.131932273G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932273G>A Locations: - p.Met134Ile (Ensembl:ENST00000376649) - c.402G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1377937705 | 134 | M>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000012.12:g.131932271A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932271A>T Locations: - p.Met134Leu (Ensembl:ENST00000376649) - c.400A>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59035541 rs1260785513 | 134 | M>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.27) - SIFT: tolerated (0.06) - PolyPhen: benign (0.279) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000012.12:g.131932272T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932272T>C Locations: - p.M134T (NCI-TCGA:ENST00000376649) - p.Met134Thr (Ensembl:ENST00000376649) - c.401T>C (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1377937705 | 134 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000012.12:g.131932271A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932271A>G Locations: - p.Met134Val (Ensembl:ENST00000376649) - c.400A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs757932749 | 135 | R>K | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (1) Somatic: No Accession: NC_000012.12:g.131932275G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932275G>A Locations: - p.Arg135Lys (Ensembl:ENST00000376649) - c.404G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1890638566 | 136 | K>Q | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.27) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.131932277A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932277A>C Locations: - p.Lys136Gln (Ensembl:ENST00000376649) - c.406A>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs763595202 | 137 | M>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.089) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000012.12:g.131932282G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932282G>T Locations: - p.Met137Ile (Ensembl:ENST00000376649) - c.411G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1159793429 | 137 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131932281T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932281T>C Locations: - p.Met137Thr (Ensembl:ENST00000376649) - c.410T>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs910629778 | 140 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131932290A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932290A>G Locations: - p.Gln140Arg (Ensembl:ENST00000376649) - c.419A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs141178477 | 141 | R>C | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131932292C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932292C>T Locations: - p.Arg141Cys (Ensembl:ENST00000376649) - c.421C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs757238803 | 141 | R>H | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131932293G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932293G>A Locations: - p.Arg141His (Ensembl:ENST00000376649) - c.422G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs554459931 | 142 | C>* | Likely benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.131932297C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932297C>A Locations: - p.Cys142Ter (Ensembl:ENST00000376649) - c.426C>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1376269878 | 143 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.864) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131932299C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932299C>G Locations: - p.Ala143Gly (Ensembl:ENST00000376649) - c.428C>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV100435125 COSV59035032 | 143 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131932298G>T Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932298G>T Locations: - c.427G>T (NCI-TCGA:ENST00000376649) - p.A143S (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV100435125 COSV59035032 rs745689913 | 143 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000003982 (gnomAD) Accession: NC_000012.12:g.131932298G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932298G>A Locations: - p.A143T (NCI-TCGA:ENST00000376649) - p.Ala143Thr (Ensembl:ENST00000376649) - c.427G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1376269878 | 143 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131932299C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932299C>T Locations: - p.Ala143Val (Ensembl:ENST00000376649) - c.428C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs104894371 | 144 | R>G | Myopathy, lactic acidosis, and sideroblastic anemia 1 (mlasa1) (Ensembl) | Pathogenic (Ensembl) | ExAC TOPMed gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131932301C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932301C>G Locations: - p.Arg144Gly (Ensembl:ENST00000376649) - c.430C>G (Ensembl:ENST00000376649) Source type: large scale study | |||||||
COSV59036551 | 144 | R>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131932302G>T Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932302G>T Locations: - c.431G>T (NCI-TCGA:ENST00000376649) - p.R144L (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs762199189 | 144 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131932302G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932302G>C Locations: - p.Arg144Pro (Ensembl:ENST00000376649) - c.431G>C (Ensembl:ENST00000376649) Source type: large scale study | |||||||
COSV59036551 rs762199189 | 144 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.00001992 (gnomAD) Accession: NC_000012.12:g.131932302G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932302G>A Locations: - p.R144Q (NCI-TCGA:ENST00000376649) - p.Arg144Gln (Ensembl:ENST00000376649) - c.431G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
VAR_021788 CA115605 RCV000002645 RCV001384611 rs104894371 | 144 | R>W | MLASA1 (UniProt) Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) Myopathy, lactic acidosis, and sideroblastic anemia 1 (mlasa1) (Ensembl) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000012.12:g.131932301C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932301C>T Locations: - p.Arg144Trp (UniProt:Q9Y606) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) - Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) Source type: mixed | |||||||
rs749537010 | 145 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131932304A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932304A>G Locations: - p.Thr145Ala (Ensembl:ENST00000376649) - c.433A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV104639660 rs146929071 | 145 | T>I | cosmic curated ESP ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131932305C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932305C>T Locations: - p.Thr145Ile (Ensembl:ENST00000376649) - c.434C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs146929071 | 145 | T>K | ESP ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131932305C>A Codon: ACA/AAA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932305C>A Locations: - p.Thr145Lys (Ensembl:ENST00000376649) - c.434C>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs925207720 | 146 | D>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131932308A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932308A>G Locations: - p.Asp146Gly (Ensembl:ENST00000376649) - c.437A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs965795464 | 147 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131932312G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932312G>T Locations: - p.Lys147Asn (Ensembl:ENST00000376649) - c.441G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1890960908 | 148 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131939174G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939174G>A Locations: - p.Gly148Asp (Ensembl:ENST00000376649) - c.443G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1156775010 | 148 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.131939173G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939173G>A Locations: - p.Gly148Ser (Ensembl:ENST00000376649) - c.442G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59035932 rs1890961120 | 150 | S>F | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131939180C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939180C>T Locations: - p.Ser150Phe (Ensembl:ENST00000376649) - c.449C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1420103271 | 151 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001167 (gnomAD) Accession: NC_000012.12:g.131939182G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939182G>A Locations: - p.A151T (NCI-TCGA:ENST00000376649) - p.Ala151Thr (Ensembl:ENST00000376649) - c.451G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1290388658 | 151 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000005827 (gnomAD) Accession: NC_000012.12:g.131939183C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939183C>T Locations: - p.A151V (NCI-TCGA:ENST00000376649) - p.Ala151Val (Ensembl:ENST00000376649) - c.452C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
CA16619453 RCV000487191 RCV001829384 RCV004568212 rs1555268564 | 152 | A>missing | Myopathy, lactic acidosis, and sideroblastic anemia (ClinVar) Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) | Likely pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000012.12:g.131939185dup Consequence type: frameshift Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939185dup Locations: - p.Ala152fs (ClinVar:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study Cross-references: | |||||||
COSV59036560 | 152 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131939186C>A Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939186C>A Locations: - c.455C>A (NCI-TCGA:ENST00000376649) - p.A152D (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1388181731 | 152 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.736) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131939185G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939185G>A Locations: - p.Ala152Thr (Ensembl:ENST00000376649) - c.454G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
CA323709 RCV000199180 rs372753711 | 153 | G>S | Variant of uncertain significance (Ensembl) | ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.585) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000012.12:g.131939188G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939188G>A Locations: - p.Gly153Ser (Ensembl:ENST00000376649) - c.457G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1372544931 | 153 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.576) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131939189G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939189G>T Locations: - p.Gly153Val (Ensembl:ENST00000376649) - c.458G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59035937 rs1309205653 | 154 | Q>H | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131939193G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939193G>T Locations: - p.Gln154His (Ensembl:ENST00000376649) - c.462G>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs994512006 | 155 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.502) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000012.12:g.131939194G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939194G>C Locations: - p.Val155Leu (Ensembl:ENST00000376649) - c.463G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59035051 rs994512006 | 155 | V>M | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.736) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131939194G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939194G>A Locations: - p.Val155Met (Ensembl:ENST00000376649) - c.463G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1240903708 | 156 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131939198T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939198T>C Locations: - p.Val156Ala (Ensembl:ENST00000376649) - c.467T>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1890962788 | 157 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131939200T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939200T>A Locations: - p.Ser157Thr (Ensembl:ENST00000376649) - c.469T>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
RCV001999822 RCV004571708 rs754855677 | 161 | W>* | Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.131939213G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939213G>A Locations: - p.Trp161Ter (Ensembl:ENST00000376649) - c.482G>A (Ensembl:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study Cross-references: | |||||||
COSV59035653 rs754855677 | 161 | W>L | Pathogenic (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.63) Somatic: Yes Accession: NC_000012.12:g.131939213G>T Codon: TGG/TTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939213G>T Locations: - p.Trp161Leu (Ensembl:ENST00000376649) - c.482G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1593294496 | 163 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.18) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000012.12:g.131939218A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939218A>G Locations: - p.Ile163Val (Ensembl:ENST00000376649) - c.487A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs377021316 | 164 | D>E | Likely benign (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000012.12:g.131939223C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939223C>G Locations: - p.Asp164Glu (Ensembl:ENST00000376649) - c.492C>G (Ensembl:ENST00000376649) Source type: large scale study | |||||||
COSV59035593 rs551877669 | 165 | D>N | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.37) Somatic: Yes Accession: NC_000012.12:g.131939224G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939224G>A Locations: - p.Asp165Asn (Ensembl:ENST00000376649) - c.493G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1437937788 | 166 | I>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000012.12:g.131939227A>C Codon: ATT/CTT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939227A>C Locations: - p.Ile166Leu (Ensembl:ENST00000376649) - c.496A>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1890963927 | 167 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000012.12:g.131939230C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939230C>G Locations: - p.Leu167Val (Ensembl:ENST00000376649) - c.499C>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs4964912 | 168 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000012.12:g.131939233G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939233G>A Locations: - p.Glu168Lys (Ensembl:ENST00000376649) - c.502G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1379666830 | 169 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.131939238G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939238G>C Locations: - p.Lys169Asn (Ensembl:ENST00000376649) - c.507G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1178046111 | 169 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.311) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000012.12:g.131939237A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939237A>G Locations: - p.Lys169Arg (Ensembl:ENST00000376649) - c.506A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs926265650 | 171 | N>K | Likely benign (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131939244C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939244C>A Locations: - p.Asn171Lys (Ensembl:ENST00000376649) - c.513C>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1161096087 | 172 | S>C | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.929) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131939245A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939245A>T Locations: - p.Ser172Cys (Ensembl:ENST00000376649) - c.514A>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1161096087 | 172 | S>G | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000012.12:g.131939245A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939245A>G Locations: - p.Ser172Gly (Ensembl:ENST00000376649) - c.514A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs769737909 | 172 | S>I | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.62) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.131939246G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939246G>T Locations: - p.Ser172Ile (Ensembl:ENST00000376649) - c.515G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs769737909 | 172 | S>N | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000012.12:g.131939246G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939246G>A Locations: - p.Ser172Asn (Ensembl:ENST00000376649) - c.515G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs758630456 | 172 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.415) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000012.12:g.131939247C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939247C>G Locations: - p.Ser172Arg (Ensembl:ENST00000376649) - c.516C>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1293785383 | 173 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.155) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000012.12:g.131939248C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939248C>T Locations: - p.His173Tyr (Ensembl:ENST00000376649) - c.517C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1396162868 | 174 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131939252T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939252T>C Locations: - p.Leu174Pro (Ensembl:ENST00000376649) - c.521T>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs747044537 | 175 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131939255C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939255C>G Locations: - p.Pro175Arg (Ensembl:ENST00000376649) - c.524C>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
RCV002269545 rs777972973 | 175 | P>S | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000012.12:g.131939254C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939254C>T Locations: - p.Pro175Ser (Ensembl:ENST00000376649) - c.523C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs746989508 | 176 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.89) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131939258C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939258C>G Locations: - p.Ser176Cys (Ensembl:ENST00000376649) - c.527C>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1890966216 | 176 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.72) Somatic: No Accession: NC_000012.12:g.131939257T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939257T>C Locations: - p.Ser176Pro (Ensembl:ENST00000376649) - c.526T>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
RCV001230647 rs768126003 | 178 | I>missing | Pathogenic (ClinVar) | ClinVar dbSNP | |||
Consequence: frameshift Somatic: No Accession: NC_000012.12:g.131939260CA[1] Consequence type: frameshift Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939260CA[1] Locations: - p.Ile178fs (ClinVar:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1225957774 | 178 | I>F | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131939263A>T Codon: ATT/TTT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939263A>T Locations: - p.Ile178Phe (Ensembl:ENST00000376649) - c.532A>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59036166 rs1019088355 | 179 | R>Q | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000012.12:g.131939267G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939267G>A Locations: - p.Arg179Gln (Ensembl:ENST00000376649) - c.536G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
COSV59035900 rs1311130749 | 179 | R>W | Likely benign (Ensembl) | cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131939266C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131939266C>T Locations: - p.Arg179Trp (Ensembl:ENST00000376649) - c.535C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1566147616 | 183 | L>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.485) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000012.12:g.131941294C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941294C>A Locations: - p.Leu183Met (Ensembl:ENST00000376649) - c.547C>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
RCV001752571 rs1891051855 | 184 | K>R | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.123) - SIFT: deleterious (0.05) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000012.12:g.131941298A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941298A>G Locations: - p.Lys184Arg (Ensembl:ENST00000376649) - c.551A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs779185827 | 185 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131941301G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941301G>A Locations: - p.Arg185Gln (Ensembl:ENST00000376649) - c.554G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV100435252 rs762885596 | 185 | R>W | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131941300C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941300C>T Locations: - p.Arg185Trp (Ensembl:ENST00000376649) - c.553C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1891052528 | 187 | T>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131941307C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941307C>T Locations: - p.Thr187Met (Ensembl:ENST00000376649) - c.560C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs371068109 | 188 | G>A | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.636) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.131941310G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941310G>C Locations: - p.Gly188Ala (Ensembl:ENST00000376649) - c.563G>C (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs776219531 | 188 | G>C | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941309G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941309G>T Locations: - p.Gly188Cys (Ensembl:ENST00000376649) - c.562G>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs776219531 | 188 | G>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.705) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.131941309G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941309G>A Locations: - p.Gly188Ser (Ensembl:ENST00000376649) - c.562G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs762808101 | 189 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.558) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000012.12:g.131941312G>C, NC_000012.12:g.131941312G>A Codon: GGG/CGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941312G>C, NC_000012.12:g.131941312G>A Locations: - p.Gly189Arg (Ensembl:ENST00000376649) - c.565G>C (Ensembl:ENST00000376649) - c.565G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
COSV100435280 | 189 | G>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131941312G>T Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941312G>T Locations: - c.565G>T (NCI-TCGA:ENST00000376649) - p.G189W (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1593296100 | 190 | F>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941315T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941315T>G Locations: - p.Phe190Val (Ensembl:ENST00000376649) - c.568T>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59035981 | 191 | N>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131941319A>T Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941319A>T Locations: - c.572A>T (NCI-TCGA:ENST00000376649) - p.N191I (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1891053892 | 191 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000012.12:g.131941319A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941319A>G Locations: - p.Asn191Ser (Ensembl:ENST00000376649) - c.572A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1487202874 | 192 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.506) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000012.12:g.131941322C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941322C>G Locations: - p.Ser192Cys (Ensembl:ENST00000376649) - c.575C>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59035159 | 192 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131941322C>T Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941322C>T Locations: - c.575C>T (NCI-TCGA:ENST00000376649) - p.S192F (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs751751103 TCGA novel | 193 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC gnomAD NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941326G>C, NC_000012.12:g.131941326G>T Codon: AAG/AAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941326G>C, NC_000012.12:g.131941326G>T Locations: - p.Lys193Asn (Ensembl:ENST00000376649) - c.579G>C (Ensembl:ENST00000376649) - c.579G>T (NCI-TCGA:ENST00000376649) - p.K193N (NCI-TCGA:ENST00000376649) Source type: large scale study | |||||||
rs758761710 | 193 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131941325A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941325A>G Locations: - p.Lys193Arg (Ensembl:ENST00000376649) - c.578A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs757441851 | 194 | N>K | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.131941329C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941329C>G Locations: - p.Asn194Lys (Ensembl:ENST00000376649) - c.582C>G (Ensembl:ENST00000376649) Source type: large scale study | |||||||
COSV59035340 | 195 | R>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.16) Somatic: Yes Accession: NC_000012.12:g.131941331G>C Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941331G>C Locations: - c.584G>C (NCI-TCGA:ENST00000376649) - p.R195T (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV100435099 COSV59034905 | 197 | D>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131941336G>C Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941336G>C Locations: - c.589G>C (NCI-TCGA:ENST00000376649) - p.D197H (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs767499859 | 198 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.386) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000012.12:g.131941339G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941339G>T Locations: - p.Ala198Ser (Ensembl:ENST00000376649) - c.592G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs767499859 | 198 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941339G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941339G>A Locations: - p.Ala198Thr (Ensembl:ENST00000376649) - c.592G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1359136377 | 201 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941349A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941349A>G Locations: - p.Tyr201Cys (Ensembl:ENST00000376649) - c.602A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs2136443310 | 202 | C>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000012.12:g.131941352G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941352G>T Locations: - p.Cys202Phe (Ensembl:ENST00000376649) - c.605G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1419534839 | 203 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941355A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941355A>G Locations: - p.Tyr203Cys (Ensembl:ENST00000376649) - c.608A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1299156014 | 204 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000012.12:g.131941357C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941357C>G Locations: - p.Leu204Val (Ensembl:ENST00000376649) - c.610C>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1347244529 | 205 | L>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941361T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941361T>G Locations: - p.Leu205Arg (Ensembl:ENST00000376649) - c.614T>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59036390 rs1434569021 | 207 | T>M | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131941367C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941367C>T Locations: - p.Thr207Met (Ensembl:ENST00000376649) - c.620C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs749757189 | 209 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.573) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941373C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941373C>T Locations: - p.Ala209Val (Ensembl:ENST00000376649) - c.626C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59036490 rs559054645 | 211 | A>V | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131941379C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941379C>T Locations: - p.Ala211Val (Ensembl:ENST00000376649) - c.632C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1566147770 | 212 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.435) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000012.12:g.131941381C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941381C>T Locations: - p.His212Tyr (Ensembl:ENST00000376649) - c.634C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs746648228 | 213 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000012.12:g.131941384A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941384A>G Locations: - p.Lys213Glu (Ensembl:ENST00000376649) - c.637A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
RCV001113695 rs545204877 | 213 | K>R | Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.493) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000012.12:g.131941385A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941385A>G Locations: - p.Lys213Arg (Ensembl:ENST00000376649) - c.638A>G (Ensembl:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study Cross-references: | |||||||
rs1375969282 | 214 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941387G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941387G>C Locations: - p.Asp214His (Ensembl:ENST00000376649) - c.640G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
CA6884208 RCV000348603 rs745345996 | 215 | R>Q | Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.43) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000012.12:g.131941391G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941391G>A Locations: - p.Arg215Gln (Ensembl:ENST00000376649) - c.644G>A (Ensembl:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study Cross-references: | |||||||
CA6884207 RCV000281975 RCV001277397 RCV001354830 RCV002520798 rs776342428 | 215 | R>W | Myopathy, lactic acidosis, and sideroblastic anemia (ClinVar) Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) Inborn genetic diseases (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.142) - SIFT: tolerated (0.12) Somatic: No Population frequencies: - MAF: 0.00007 (ClinVar) Accession: NC_000012.12:g.131941390C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941390C>T Locations: - p.Arg215Trp (Ensembl:ENST00000376649) - c.643C>T (Ensembl:ENST00000376649) Disease association: - Inborn genetic diseases - Myopathy, lactic acidosis, and sideroblastic anemia - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study | |||||||
RCV000995006 rs528150799 | 216 | D>G | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.153) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000012.12:g.131941394A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941394A>G Locations: - p.Asp216Gly (Ensembl:ENST00000376649) - c.647A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
RCV001113696 RCV001575667 rs200591614 | 217 | V>I | Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.46) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000012.12:g.131941396G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941396G>A Locations: - p.Val217Ile (Ensembl:ENST00000376649) - c.649G>A (Ensembl:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study | |||||||
COSV100435288 rs1379048326 | 218 | Q>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.37) - PolyPhen: benign (0.003) - SIFT: tolerated (0.39) Somatic: Yes Population frequencies: - MAF: 0.000003978 (gnomAD) Accession: NC_000012.12:g.131941399C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941399C>G Locations: - p.Q218E (NCI-TCGA:ENST00000376649) - p.Gln218Glu (Ensembl:ENST00000376649) - c.652C>G (Ensembl:ENST00000376649) Source type: large scale study | |||||||
CA115607 RCV000002646 rs104894372 | 220 | E>* | Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) Myopathy, lactic acidosis, and sideroblastic anemia 1 (mlasa1) (Ensembl) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.131941405G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941405G>T Locations: - p.Glu220Ter (Ensembl:ENST00000376649) - c.658G>T (Ensembl:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study Cross-references: | |||||||
VAR_086156 | 220-427 | ET>del | MLASA1 (UniProt) | UniProt | |||
Consequence: inframe deletion Somatic: No Accession: Consequence type: inframe deletion Cytogenetic band: 12q24.33 Genomic location: Locations: - p.Glu220_Asp427del (UniProt:Q9Y606) Disease association: - Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) Source type: uniprot Cross-references: | |||||||
rs763808149 | 221 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131941409C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941409C>T Locations: - p.Thr221Ile (Ensembl:ENST00000376649) - c.662C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs763808149 | 221 | T>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000012.12:g.131941409C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941409C>G Locations: - p.Thr221Ser (Ensembl:ENST00000376649) - c.662C>G (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs774127499 | 222 | Y>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.165) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131941411T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941411T>C Locations: - p.Tyr222His (Ensembl:ENST00000376649) - c.664T>C (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs778147307 | 223 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.696) - SIFT: deleterious (0.03) - PolyPhen: possibly damaging (0.691) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.000007958 (gnomAD) Accession: NC_000012.12:g.131941414C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941414C>T Locations: - p.R223C (NCI-TCGA:ENST00000376649) - p.Arg223Cys (Ensembl:ENST00000376649) - c.667C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59036599 RCV001991681 rs750543437 | 223 | R>H | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.439) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000012.12:g.131941415G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941415G>A Locations: - p.Arg223His (Ensembl:ENST00000376649) - c.668G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs750543437 | 223 | R>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.54) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941415G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941415G>T Locations: - p.Arg223Leu (Ensembl:ENST00000376649) - c.668G>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
COSV59036128 rs1891059140 | 225 | S>N | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.11) Somatic: Yes Accession: NC_000012.12:g.131941421G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941421G>A Locations: - p.Ser225Asn (Ensembl:ENST00000376649) - c.674G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs756217351 | 225 | S>R | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000012.12:g.131941422C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941422C>G Locations: - p.Ser225Arg (Ensembl:ENST00000376649) - c.675C>G (Ensembl:ENST00000376649) Source type: large scale study | |||||||
COSV59035252 RCV000995007 RCV002549889 rs376680579 | 226 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Inborn genetic diseases (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.56) - PolyPhen: benign (0.003) - SIFT: tolerated (0.24) Somatic: Yes Population frequencies: - MAF: 0.00005571 (gnomAD) - MAF: 0.00007 (ClinVar) Accession: NC_000012.12:g.131941423G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941423G>A Locations: - p.A226T (NCI-TCGA:ENST00000376649) - p.Ala226Thr (Ensembl:ENST00000376649) - c.676G>A (Ensembl:ENST00000376649) Disease association: - Inborn genetic diseases Source type: large scale study | |||||||
COSV59035008 rs150144035 | 227 | E>K | Variant of uncertain significance (Ensembl) | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000012.12:g.131941426G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941426G>A Locations: - p.Glu227Lys (Ensembl:ENST00000376649) - c.679G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
CA6884221 COSV59035847 RCV000404444 RCV003105863 rs755448329 | 228 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.174) - SIFT: deleterious (0.05) - PolyPhen: benign (0.171) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.00001592 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000012.12:g.131941430C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941430C>T Locations: - p.T228M (NCI-TCGA:ENST00000376649) - p.Thr228Met (Ensembl:ENST00000376649) - c.683C>T (Ensembl:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study | |||||||
TCGA novel | 230 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000012.12:g.131941437G>T Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941437G>T Locations: - c.690G>T (NCI-TCGA:ENST00000376649) - p.Q230H (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1352613195 | 230 | Q>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.219) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131941436A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941436A>C Locations: - p.Gln230Pro (Ensembl:ENST00000376649) - c.689A>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs369787595 | 231 | Q>* | ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.131941438C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941438C>T Locations: - p.Gln231Ter (Ensembl:ENST00000376649) - c.691C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs369787595 | 231 | Q>E | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000012.12:g.131941438C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941438C>G Locations: - p.Gln231Glu (Ensembl:ENST00000376649) - c.691C>G (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1891060547 | 232 | V>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.945) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941441G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941441G>T Locations: - p.Val232Phe (Ensembl:ENST00000376649) - c.694G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs756905051 | 233 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.606) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.131941445A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941445A>G Locations: - p.Asn233Ser (Ensembl:ENST00000376649) - c.698A>G (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1023565853 | 234 | R>G | Likely benign (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000012.12:g.131941447A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941447A>G Locations: - p.Arg234Gly (Ensembl:ENST00000376649) - c.700A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs780957532 TCGA novel | 234 | R>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD NCI-TCGA | ||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.37) - PolyPhen: benign (0.01) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000012.12:g.131941449G>C, NC_000012.12:g.131941449G>T Codon: AGG/AGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941449G>C, NC_000012.12:g.131941449G>T Locations: - p.Arg234Ser (Ensembl:ENST00000376649) - c.702G>C (Ensembl:ENST00000376649) - c.702G>T (NCI-TCGA:ENST00000376649) - p.R234S (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1891061813 | 236 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941454T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941454T>C Locations: - p.Leu236Pro (Ensembl:ENST00000376649) - c.707T>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1891061699 | 236 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941453C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941453C>G Locations: - p.Leu236Val (Ensembl:ENST00000376649) - c.706C>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs2136443580 | 238 | C>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000012.12:g.131941459T>A Codon: TGC/AGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941459T>A Locations: - p.Cys238Ser (Ensembl:ENST00000376649) - c.712T>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
CA6884228 RCV000454345 rs779651314 | 239 | Y>* | Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar ExAC dbSNP gnomAD | ||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000012.12:g.131941464C>A Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941464C>A Locations: - p.Tyr239Ter (Ensembl:ENST00000376649) - c.717C>A (Ensembl:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study Cross-references: | |||||||
rs769448840 | 239 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941463A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941463A>G Locations: - p.Tyr239Cys (Ensembl:ENST00000376649) - c.716A>G (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs749184825 | 240 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.134) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000012.12:g.131941465A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941465A>G Locations: - p.Lys240Glu (Ensembl:ENST00000376649) - c.718A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1157115342 | 240 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.165) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000012.12:g.131941466A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941466A>G Locations: - p.Lys240Arg (Ensembl:ENST00000376649) - c.719A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
RCV001056657 rs1891062680 | 241 | G>missing | Pathogenic (ClinVar) | ClinVar dbSNP | |||
Consequence: frameshift Somatic: No Accession: NC_000012.12:g.131941469del Consequence type: frameshift Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941469del Locations: - p.Gly241fs (ClinVar:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1030898303 | 242 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941471A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941471A>G Locations: - p.Thr242Ala (Ensembl:ENST00000376649) - c.724A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
CA10640546 RCV000313716 RCV002520799 RCV002522226 rs886049092 | 242 | T>M | Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) Inborn genetic diseases (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000012.12:g.131941472C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941472C>T Locations: - p.Thr242Met (Ensembl:ENST00000376649) - c.725C>T (Ensembl:ENST00000376649) Disease association: - Inborn genetic diseases - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study | |||||||
rs774071029 | 243 | H>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.874) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941476C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941476C>G Locations: - p.His243Gln (Ensembl:ENST00000376649) - c.729C>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
CA321185 RCV000196767 rs863224175 | 243 | H>R | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.356) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000012.12:g.131941475A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941475A>G Locations: - p.His243Arg (Ensembl:ENST00000376649) - c.728A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59035576 rs986682392 | 244 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.654) - SIFT: tolerated (0.05) - PolyPhen: possibly damaging (0.664) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000012.12:g.131941478A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941478A>G Locations: - p.N244S (NCI-TCGA:ENST00000376649) - p.Asn244Ser (Ensembl:ENST00000376649) - c.731A>G (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs761639218 | 245 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941482C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941482C>G Locations: - p.Phe245Leu (Ensembl:ENST00000376649) - c.735C>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
RCV001277398 rs1891063731 | 246 | H>R | Myopathy, lactic acidosis, and sideroblastic anemia (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941484A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941484A>G Locations: - p.His246Arg (Ensembl:ENST00000376649) - c.737A>G (Ensembl:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia Source type: large scale study | |||||||
rs1566148008 | 247 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941487A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941487A>G Locations: - p.Asn247Ser (Ensembl:ENST00000376649) - c.740A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1593296389 | 249 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941492A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941492A>C Locations: - p.Thr249Pro (Ensembl:ENST00000376649) - c.745A>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV100435249 rs771814798 | 250 | S>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131941496C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941496C>T Locations: - p.Ser250Leu (Ensembl:ENST00000376649) - c.749C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1891064611 | 251 | Q>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.131941500G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941500G>T Locations: - p.Gln251His (Ensembl:ENST00000376649) - c.753G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs191299863 | 253 | G>R | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.109) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000012.12:g.131941504G>A, NC_000012.12:g.131941504G>C Codon: GGG/AGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941504G>A, NC_000012.12:g.131941504G>C Locations: - p.Gly253Arg (Ensembl:ENST00000376649) - c.757G>A (Ensembl:ENST00000376649) - c.757G>C (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1891064919 | 253 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.336) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131941505G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941505G>T Locations: - p.Gly253Val (Ensembl:ENST00000376649) - c.758G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59036702 rs753950876 | 254 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.781) - SIFT: tolerated (0.09) - PolyPhen: possibly damaging (0.778) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.000007964 (gnomAD) Accession: NC_000012.12:g.131941508C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941508C>T Locations: - p.P254L (NCI-TCGA:ENST00000376649) - p.Pro254Leu (Ensembl:ENST00000376649) - c.761C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1441149169 | 254 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.585) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000012.12:g.131941507C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941507C>T Locations: - p.Pro254Ser (Ensembl:ENST00000376649) - c.760C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59036615 | 255 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.131941510C>T Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941510C>T Locations: - c.763C>T (NCI-TCGA:ENST00000376649) - p.Q255* (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59035529 | 257 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.904) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131941516C>T Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941516C>T Locations: - c.769C>T (NCI-TCGA:ENST00000376649) - p.P257S (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs376412844 | 259 | A>T | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941522G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941522G>A Locations: - p.Ala259Thr (Ensembl:ENST00000376649) - c.775G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs976704899 | 260 | C>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.131941527C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941527C>A Locations: - p.Cys260Ter (Ensembl:ENST00000376649) - c.780C>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1891066407 | 260 | C>R | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000012.12:g.131941525T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941525T>C Locations: - p.Cys260Arg (Ensembl:ENST00000376649) - c.778T>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs758817383 | 261 | R>C | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941528C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941528C>T Locations: - p.Arg261Cys (Ensembl:ENST00000376649) - c.781C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
COSV59036363 rs371146708 | 261 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.00001194 (gnomAD) Accession: NC_000012.12:g.131941529G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941529G>A Locations: - p.R261H (NCI-TCGA:ENST00000376649) - p.Arg261His (Ensembl:ENST00000376649) - c.782G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
CA323956 RCV000199413 RCV001828029 rs755760215 | 263 | I>M | Myopathy, lactic acidosis, and sideroblastic anemia (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.86) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000012.12:g.131941536C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941536C>G Locations: - p.Ile263Met (Ensembl:ENST00000376649) - c.789C>G (Ensembl:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia Source type: large scale study | |||||||
rs750111114 | 263 | I>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941535T>G Codon: ATC/AGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941535T>G Locations: - p.Ile263Ser (Ensembl:ENST00000376649) - c.788T>G (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1891067631 | 265 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.106) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.131941540G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941540G>A Locations: - p.Glu265Lys (Ensembl:ENST00000376649) - c.793G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1383698470 | 266 | M>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000012.12:g.131941543A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941543A>C Locations: - p.Met266Leu (Ensembl:ENST00000376649) - c.796A>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1593296460 | 266 | M>T | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.572) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941544T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941544T>C Locations: - p.Met266Thr (Ensembl:ENST00000376649) - c.797T>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
RCV001041900 rs1891068271 | 267 | Y>* | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.131941548C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941548C>G Locations: - p.Tyr267Ter (Ensembl:ENST00000376649) - c.801C>G (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs779775797 | 267 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000012.12:g.131941547A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941547A>G Locations: - p.Tyr267Cys (Ensembl:ENST00000376649) - c.800A>G (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1386093834 | 267 | Y>D | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000012.12:g.131941546T>G Codon: TAC/GAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941546T>G Locations: - p.Tyr267Asp (Ensembl:ENST00000376649) - c.799T>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1386093834 | 267 | Y>H | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000012.12:g.131941546T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941546T>C Locations: - p.Tyr267His (Ensembl:ENST00000376649) - c.799T>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs200925842 | 268 | C>* | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.131941551C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941551C>A Locations: - p.Cys268Ter (Ensembl:ENST00000376649) - c.804C>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs368069254 | 268 | C>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941549T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941549T>C Locations: - p.Cys268Arg (Ensembl:ENST00000376649) - c.802T>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs200925842 | 268 | C>W | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941551C>G Codon: TGC/TGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941551C>G Locations: - p.Cys268Trp (Ensembl:ENST00000376649) - c.804C>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59035636 | 268 | C>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131941550G>A Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941550G>A Locations: - c.803G>A (NCI-TCGA:ENST00000376649) - p.C268Y (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs768524567 | 269 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.106) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000012.12:g.131941552G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941552G>A Locations: - p.Glu269Lys (Ensembl:ENST00000376649) - c.805G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1472123639 | 270 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.518) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941556A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941556A>G Locations: - p.Glu270Gly (Ensembl:ENST00000376649) - c.809A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
RCV000714784 rs1566148136 | 272 | F>missing | Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) | Likely pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000012.12:g.131941560del Consequence type: frameshift Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941560del Locations: - p.Phe272fs (ClinVar:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study Cross-references: | |||||||
rs1441156640 | 272 | F>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131941562T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941562T>C Locations: - p.Phe272Ser (Ensembl:ENST00000376649) - c.815T>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
CA320953 RCV000196531 rs863224173 | 273 | V>A | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941565T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941565T>C Locations: - p.Val273Ala (Ensembl:ENST00000376649) - c.818T>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1187364009 | 273 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000012.12:g.131941564G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941564G>T Locations: - p.Val273Leu (Ensembl:ENST00000376649) - c.817G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs888950575 | 274 | R>G | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.131941567C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941567C>G Locations: - p.Arg274Gly (Ensembl:ENST00000376649) - c.820C>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs138561555 | 274 | R>L | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.131941568G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941568G>T Locations: - p.Arg274Leu (Ensembl:ENST00000376649) - c.821G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs138561555 | 274 | R>P | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131941568G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941568G>C Locations: - p.Arg274Pro (Ensembl:ENST00000376649) - c.821G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59036943 RCV000757710 RCV001274959 RCV002517250 rs138561555 | 274 | R>Q | Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) Inborn genetic diseases (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.109) - SIFT: tolerated (0.15) Somatic: Yes Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000012.12:g.131941568G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941568G>A Locations: - p.Arg274Gln (Ensembl:ENST00000376649) - c.821G>A (Ensembl:ENST00000376649) Disease association: - Inborn genetic diseases - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study | |||||||
rs888950575 | 274 | R>W | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131941567C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941567C>T Locations: - p.Arg274Trp (Ensembl:ENST00000376649) - c.820C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1891070506 | 275 | E>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000012.12:g.131941570G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941570G>C Locations: - p.Glu275Gln (Ensembl:ENST00000376649) - c.823G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1207742139 | 276 | G>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941573G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941573G>T Locations: - p.Gly276Cys (Ensembl:ENST00000376649) - c.826G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs149324363 | 277 | L>M | Likely benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.8) Somatic: No Accession: NC_000012.12:g.131941576C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941576C>A Locations: - p.Leu277Met (Ensembl:ENST00000376649) - c.829C>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1291456768 | 278 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000012.12:g.131941579G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941579G>C Locations: - p.Glu278Gln (Ensembl:ENST00000376649) - c.832G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
RCV001049377 rs1207533798 | 280 | A>missing | Pathogenic (ClinVar) | ClinVar dbSNP | |||
Consequence: frameshift Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000012.12:g.131941584_131941585del Consequence type: frameshift Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941584_131941585del Locations: - p.Ala280fs (ClinVar:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59036117 rs772926703 | 280 | A>V | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.184) - SIFT: tolerated (0.23) Somatic: Yes Accession: NC_000012.12:g.131941586C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941586C>T Locations: - p.Ala280Val (Ensembl:ENST00000376649) - c.839C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs759626428 | 281 | V>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.905) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941589T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941589T>G Locations: - p.Val281Gly (Ensembl:ENST00000376649) - c.842T>G (Ensembl:ENST00000376649) Source type: large scale study | |||||||
CA320430 COSV59035792 RCV000196036 RCV001113697 rs776626629 | 281 | V>M | Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.0001 (ClinVar) Accession: NC_000012.12:g.131941588G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941588G>A Locations: - p.Val281Met (Ensembl:ENST00000376649) - c.841G>A (Ensembl:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study | |||||||
rs1450176768 | 282 | I>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.808) - SIFT: deleterious (0.01) - PolyPhen: possibly damaging (0.815) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.131941593C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941593C>G Locations: - p.I282M (NCI-TCGA:ENST00000376649) - p.Ile282Met (Ensembl:ENST00000376649) - c.846C>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs764556664 | 283 | R>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000012.12:g.131941595G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941595G>A Locations: - p.Arg283Lys (Ensembl:ENST00000376649) - c.848G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs764556664 | 283 | R>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000012.12:g.131941595G>C Codon: AGG/ACG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941595G>C Locations: - p.Arg283Thr (Ensembl:ENST00000376649) - c.848G>C (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1035374372 | 284 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.622) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941597G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941597G>C Locations: - p.Val284Leu (Ensembl:ENST00000376649) - c.850G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs144648926 | 285 | K>N | Likely benign (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.95) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941602G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941602G>T Locations: - p.Lys285Asn (Ensembl:ENST00000376649) - c.855G>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1891073059 | 286 | G>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941603G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941603G>A Locations: - p.Gly286Ser (Ensembl:ENST00000376649) - c.856G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
TCGA novel | 288 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941610G>A Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941610G>A Locations: - c.863G>A (NCI-TCGA:ENST00000376649) - p.S288N (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 288 | S>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941611C>G Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941611C>G Locations: - c.864C>G (NCI-TCGA:ENST00000376649) - p.S288R (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV59035616 rs1379772039 | 290 | M>T | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131941616T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941616T>C Locations: - p.Met290Thr (Ensembl:ENST00000376649) - c.869T>C (Ensembl:ENST00000376649) Source type: large scale study | |||||||
COSV107370130 rs1891073339 | 290 | M>V | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.842) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000012.12:g.131941615A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941615A>G Locations: - p.Met290Val (Ensembl:ENST00000376649) - c.868A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs779733496 | 291 | M>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.96) Somatic: No Accession: NC_000012.12:g.131941618A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941618A>T Locations: - p.Met291Leu (Ensembl:ENST00000376649) - c.871A>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs753392891 | 292 | H>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941622A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941622A>G Locations: - p.His292Arg (Ensembl:ENST00000376649) - c.875A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
CA320208 RCV000195831 rs863224176 | 293 | Q>P | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000012.12:g.131941625A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941625A>C Locations: - p.Gln293Pro (Ensembl:ENST00000376649) - c.878A>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59034780 rs754539632 | 294 | I>F | Variant of uncertain significance (Ensembl) | cosmic curated ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131941627A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941627A>T Locations: - p.Ile294Phe (Ensembl:ENST00000376649) - c.880A>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1891074269 | 294 | I>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941628T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941628T>C Locations: - p.Ile294Thr (Ensembl:ENST00000376649) - c.881T>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1045133170 | 295 | R>L | Myopathy, lactic acidosis, and sideroblastic anemia 1 (mlasa1) (Ensembl) | Likely pathogenic (Ensembl) | TOPMed gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941631G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941631G>T Locations: - p.Arg295Leu (Ensembl:ENST00000376649) - c.884G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
VAR_086157 COSV105226109 rs1045133170 | 295 | R>Q | MLASA1; uncertain significance; mild phenotype (UniProt) Myopathy, lactic acidosis, and sideroblastic anemia 1 (mlasa1) (Ensembl) | Likely pathogenic (Ensembl) | UniProt cosmic curated TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.131941631G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941631G>A Locations: - p.Arg295Gln (UniProt:Q9Y606) Disease association: - Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) Source type: mixed Cross-references: | |||||||
VAR_086158 CA351619 COSV59035181 RCV000207447 rs869025309 | 295 | R>W | MLASA1; uncertain significance; mild phenotype (UniProt) Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) Myopathy, lactic acidosis, and sideroblastic anemia 1 (mlasa1) (Ensembl) | Pathogenic (Ensembl, ClinVar) | UniProt ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000012.12:g.131941630C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941630C>T Locations: - p.Arg295Trp (UniProt:Q9Y606) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) - Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) Source type: mixed | |||||||
rs1022672949 | 297 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941638G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941638G>A Locations: - p.M297I (NCI-TCGA:ENST00000376649) - p.Met297Ile (Ensembl:ENST00000376649) - c.891G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs748123020 | 297 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941636A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941636A>G Locations: - p.Met297Val (Ensembl:ENST00000376649) - c.889A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
TCGA novel | 298 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.889) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941640T>C Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941640T>C Locations: - c.893T>C (NCI-TCGA:ENST00000376649) - p.V298A (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV59036537 | 298 | V>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131941639G>T Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941639G>T Locations: - c.892G>T (NCI-TCGA:ENST00000376649) - p.V298F (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs777605316 | 299 | G>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941642G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941642G>T Locations: - p.Gly299Cys (Ensembl:ENST00000376649) - c.895G>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
COSV59035399 rs777605316 | 299 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000012.12:g.131941642G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941642G>A Locations: - p.G299S (NCI-TCGA:ENST00000376649) - p.Gly299Ser (Ensembl:ENST00000376649) - c.895G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1429334836 | 300 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941646T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941646T>C Locations: - p.Leu300Pro (Ensembl:ENST00000376649) - c.899T>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs2136444073 | 301 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.651) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000012.12:g.131941648G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941648G>A Locations: - p.Val301Met (Ensembl:ENST00000376649) - c.901G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs148057665 | 302 | V>L | Likely benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000012.12:g.131941651G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941651G>C Locations: - p.Val302Leu (Ensembl:ENST00000376649) - c.904G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
RCV000941268 RCV001274960 RCV003933212 rs148057665 | 302 | V>M | Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) PUS1-related disorder (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.878) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000012.12:g.131941651G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941651G>A Locations: - p.Val302Met (Ensembl:ENST00000376649) - c.904G>A (Ensembl:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) - PUS1-related disorder Source type: large scale study | |||||||
rs1477703564 | 304 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.131941658T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941658T>C Locations: - p.Ile304Thr (Ensembl:ENST00000376649) - c.911T>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1376013584 | 304 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated (0.92) Somatic: No Accession: NC_000012.12:g.131941657A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941657A>G Locations: - p.Ile304Val (Ensembl:ENST00000376649) - c.910A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1309276486 | 306 | K>* | Pathogenic (Ensembl) | TOPMed gnomAD | |||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.131941663A>T Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941663A>T Locations: - p.Lys306Ter (Ensembl:ENST00000376649) - c.916A>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs373663411 | 306 | K>N | Likely benign (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.816) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941665G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941665G>T Locations: - p.Lys306Asn (Ensembl:ENST00000376649) - c.918G>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs746024769 | 307 | G>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941667G>C Codon: GGT/GCT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941667G>C Locations: - p.Gly307Ala (Ensembl:ENST00000376649) - c.920G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs2136444116 | 307 | G>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941666G>T Codon: GGT/TGT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941666G>T Locations: - p.Gly307Cys (Ensembl:ENST00000376649) - c.919G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs769927396 | 308 | Y>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000012.12:g.131941670A>T Codon: TAT/TTT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941670A>T Locations: - p.Tyr308Phe (Ensembl:ENST00000376649) - c.923A>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1296080359 | 309 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.131941672G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941672G>T Locations: - p.Ala309Ser (Ensembl:ENST00000376649) - c.925G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1296080359 | 309 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000012.12:g.131941672G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941672G>A Locations: - p.Ala309Thr (Ensembl:ENST00000376649) - c.925G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59036446 RCV001840915 rs140275952 | 309 | A>V | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.09) Somatic: Yes Population frequencies: - MAF: 0.0006 (ClinVar) Accession: NC_000012.12:g.131941673C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941673C>T Locations: - p.Ala309Val (Ensembl:ENST00000376649) - c.926C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
RCV001985102 rs2136444136 | 310 | P>missing | Pathogenic (ClinVar) | ClinVar dbSNP | |||
Consequence: frameshift Somatic: No Accession: NC_000012.12:g.131941676_131941677del Consequence type: frameshift Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941676_131941677del Locations: - p.Pro310fs (ClinVar:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs146053653 | 310 | P>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000012.12:g.131941675C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941675C>T Locations: - p.Pro310Ser (Ensembl:ENST00000376649) - c.928C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1328851064 | 311 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: tolerated (0.18) - PolyPhen: benign (0.105) - SIFT: tolerated (0.11) Somatic: No Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000012.12:g.131941678G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941678G>A Locations: - p.E311K (NCI-TCGA:ENST00000376649) - p.Glu311Lys (Ensembl:ENST00000376649) - c.931G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
VAR_086159 | 311-427 | ES>del | MLASA1 (UniProt) | UniProt | |||
Consequence: inframe deletion Somatic: No Accession: Consequence type: inframe deletion Cytogenetic band: 12q24.33 Genomic location: Locations: - p.Glu311_Asp427del (UniProt:Q9Y606) Disease association: - Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) Source type: uniprot Cross-references: | |||||||
rs377060121 | 312 | S>R | Likely benign (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.827) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000012.12:g.131941683C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941683C>A Locations: - p.Ser312Arg (Ensembl:ENST00000376649) - c.936C>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs140088613 | 313 | V>L | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000012.12:g.131941684G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941684G>T Locations: - p.Val313Leu (Ensembl:ENST00000376649) - c.937G>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
RCV001109669 RCV002556144 rs140088613 | 313 | V>M | Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.318) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0.00004 (ClinVar) Accession: NC_000012.12:g.131941684G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941684G>A Locations: - p.Val313Met (Ensembl:ENST00000376649) - c.937G>A (Ensembl:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study | |||||||
rs1019478956 | 315 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000012.12:g.131941692G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941692G>C Locations: - p.Glu315Asp (Ensembl:ENST00000376649) - c.945G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1486366224 | 315 | E>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.301) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000012.12:g.131941690G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941690G>C Locations: - p.Glu315Gln (Ensembl:ENST00000376649) - c.943G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV108156408 RCV001109670 RCV002558097 rs573837941 | 316 | R>C | Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) Myopathy, lactic acidosis, and sideroblastic anemia 1 (mlasa1) (Ensembl) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.115) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000012.12:g.131941693C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941693C>T Locations: - p.Arg316Cys (Ensembl:ENST00000376649) - c.946C>T (Ensembl:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study | |||||||
COSV59034709 rs770654583 | 316 | R>H | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.115) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000012.12:g.131941694G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941694G>A Locations: - p.Arg316His (Ensembl:ENST00000376649) - c.947G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59034709 COSV59035414 | 316 | R>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.312) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000012.12:g.131941694G>T Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941694G>T Locations: - c.947G>T (NCI-TCGA:ENST00000376649) - p.R316L (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs370427981 | 317 | S>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.203) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941697G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941697G>T Locations: - p.Ser317Ile (Ensembl:ENST00000376649) - c.950G>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1891079859 | 317 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.907) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941698C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941698C>G Locations: - p.Ser317Arg (Ensembl:ENST00000376649) - c.951C>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1891080013 | 318 | W>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941701G>T Codon: TGG/TGT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941701G>T Locations: - p.Trp318Cys (Ensembl:ENST00000376649) - c.954G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1194309707 | 319 | G>S | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.485) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000012.12:g.131941702G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941702G>A Locations: - p.Gly319Ser (Ensembl:ENST00000376649) - c.955G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59034772 rs781152810 | 321 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Likely benign (Ensembl) | NCI-TCGA Cosmic cosmic curated TOPMed gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.27) - PolyPhen: benign (0.021) - SIFT: tolerated (0.21) Somatic: Yes Accession: NC_000012.12:g.131941710G>T, NC_000012.12:g.131941710G>C Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941710G>T, NC_000012.12:g.131941710G>C Locations: - c.963G>T (NCI-TCGA:ENST00000376649) - p.E321D (NCI-TCGA:ENST00000376649) - p.Glu321Asp (Ensembl:ENST00000376649) - c.963G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
RCV001039942 rs1891080553 | 322 | K>missing | Pathogenic (ClinVar) | ClinVar dbSNP | |||
Consequence: frameshift Somatic: No Accession: NC_000012.12:g.131941708_131941709GA[1] Consequence type: frameshift Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941708_131941709GA[1] Locations: - p.Lys322fs (ClinVar:ENST00000376649) Source type: large scale study Cross-references: | |||||||
RCV001277399 RCV003323842 rs1156671661 | 325 | V>M | Myopathy, lactic acidosis, and sideroblastic anemia (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000012.12:g.131941720G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941720G>A Locations: - p.Val325Met (Ensembl:ENST00000376649) - c.973G>A (Ensembl:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia Source type: large scale study Cross-references: | |||||||
COSV59036925 rs746104627 | 328 | A>V | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000012.12:g.131941730C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941730C>T Locations: - p.Ala328Val (Ensembl:ENST00000376649) - c.983C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1891081987 | 329 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941732C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941732C>T Locations: - p.Pro329Ser (Ensembl:ENST00000376649) - c.985C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs769326502 | 330 | G>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.131941735G>T Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941735G>T Locations: - p.Gly330Ter (Ensembl:ENST00000376649) - c.988G>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
COSV59034731 rs769326502 | 330 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.0000199 (gnomAD) Accession: NC_000012.12:g.131941735G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941735G>A Locations: - p.G330R (NCI-TCGA:ENST00000376649) - p.Gly330Arg (Ensembl:ENST00000376649) - c.988G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
TCGA novel | 332 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941742G>A Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941742G>A Locations: - c.995G>A (NCI-TCGA:ENST00000376649) - p.G332D (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV59034978 rs762353739 | 332 | G>S | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131941741G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941741G>A Locations: - p.Gly332Ser (Ensembl:ENST00000376649) - c.994G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
COSV100435212 | 335 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131941751T>C Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941751T>C Locations: - c.1004T>C (NCI-TCGA:ENST00000376649) - p.L335P (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs764778045 | 337 | R>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.318) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000012.12:g.131941758G>T Codon: AGG/AGT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941758G>T Locations: - p.Arg337Ser (Ensembl:ENST00000376649) - c.1011G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs985989397 | 339 | H>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941763A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941763A>G Locations: - p.His339Arg (Ensembl:ENST00000376649) - c.1016A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1482066019 | 340 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941765T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941765T>C Locations: - p.Phe340Leu (Ensembl:ENST00000376649) - c.1018T>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
RCV001905481 rs142624501 | 341 | E>K | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.203) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000012.12:g.131941768G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941768G>A Locations: - p.Glu341Lys (Ensembl:ENST00000376649) - c.1021G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1176704866 | 342 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000012.12:g.131941773G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941773G>C Locations: - p.Lys342Asn (Ensembl:ENST00000376649) - c.1026G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1456455652 | 342 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000012.12:g.131941772A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941772A>G Locations: - p.Lys342Arg (Ensembl:ENST00000376649) - c.1025A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs763542157 | 343 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131941774T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941774T>C Locations: - p.Tyr343His (Ensembl:ENST00000376649) - c.1027T>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs948176536 | 344 | N>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.573) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.131941777A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941777A>G Locations: - p.Asn344Asp (Ensembl:ENST00000376649) - c.1030A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs751508177 | 344 | N>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941778A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941778A>T Locations: - p.Asn344Ile (Ensembl:ENST00000376649) - c.1031A>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs751508177 | 344 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.788) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131941778A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941778A>G Locations: - p.Asn344Ser (Ensembl:ENST00000376649) - c.1031A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1160980561 | 345 | Q>H | Likely benign (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.406) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131941782G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941782G>C Locations: - p.Gln345His (Ensembl:ENST00000376649) - c.1035G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs781105858 | 346 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941783C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941783C>T Locations: - p.Arg346Cys (Ensembl:ENST00000376649) - c.1036C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
COSV59036759 rs750169475 | 346 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.0001395 (gnomAD) Accession: NC_000012.12:g.131941784G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941784G>A Locations: - p.R346H (NCI-TCGA:ENST00000376649) - p.Arg346His (Ensembl:ENST00000376649) - c.1037G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs756406342 | 348 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.835) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.131941789G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941789G>A Locations: - p.Gly348Ser (Ensembl:ENST00000376649) - c.1042G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs145061048 | 349 | N>K | Likely benign (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000012.12:g.131941794C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941794C>G Locations: - p.Asn349Lys (Ensembl:ENST00000376649) - c.1047C>G (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs200116696 | 349 | N>S | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000012.12:g.131941793A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941793A>G Locations: - p.Asn349Ser (Ensembl:ENST00000376649) - c.1046A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59036008 rs374773639 | 350 | D>N | cosmic curated ESP gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000012.12:g.131941795G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941795G>A Locations: - p.Asp350Asn (Ensembl:ENST00000376649) - c.1048G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1443889425 | 351 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941799G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941799G>A Locations: - p.Gly351Glu (Ensembl:ENST00000376649) - c.1052G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs201603339 | 352 | L>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000012.12:g.131941801C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941801C>G Locations: - p.Leu352Val (Ensembl:ENST00000376649) - c.1054C>G (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1052476493 | 353 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941805A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941805A>G Locations: - p.His353Arg (Ensembl:ENST00000376649) - c.1058A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59034925 rs748733498 | 355 | P>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.322) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000012.12:g.131941811C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941811C>T Locations: - p.Pro355Leu (Ensembl:ENST00000376649) - c.1064C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
RCV001940333 rs551018914 | 355 | P>S | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: tolerated (0.12) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000012.12:g.131941810C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941810C>T Locations: - p.Pro355Ser (Ensembl:ENST00000376649) - c.1063C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1355123338 | 356 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941813C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941813C>G Locations: - p.Leu356Val (Ensembl:ENST00000376649) - c.1066C>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1275207512 | 357 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (1) Somatic: No Accession: NC_000012.12:g.131941818C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941818C>A Locations: - p.Asp357Glu (Ensembl:ENST00000376649) - c.1071C>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1260847293 | 358 | W>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.131941821G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941821G>A Locations: - p.Trp358Ter (Ensembl:ENST00000376649) - c.1074G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs771290692 | 359 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.168) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000012.12:g.131941822G>C Codon: GCG/CCG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941822G>C Locations: - p.Ala359Pro (Ensembl:ENST00000376649) - c.1075G>C (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs771290692 | 359 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.7) Somatic: No Accession: NC_000012.12:g.131941822G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941822G>T Locations: - p.Ala359Ser (Ensembl:ENST00000376649) - c.1075G>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs771290692 | 359 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.7) Somatic: No Accession: NC_000012.12:g.131941822G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941822G>A Locations: - p.Ala359Thr (Ensembl:ENST00000376649) - c.1075G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
COSV59036346 RCV000942843 RCV001274963 rs142072030 | 359 | A>V | Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) | Likely benign (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.33) Somatic: Yes Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000012.12:g.131941823C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941823C>T Locations: - p.Ala359Val (Ensembl:ENST00000376649) - c.1076C>T (Ensembl:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study | |||||||
rs1480916189 | 360 | Q>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.163) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131941826A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941826A>C Locations: - p.Gln360Pro (Ensembl:ENST00000376649) - c.1079A>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1891088700 | 361 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000012.12:g.131941828G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941828G>A Locations: - p.Glu361Lys (Ensembl:ENST00000376649) - c.1081G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1891088947 | 364 | K>N | Likely benign (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.136) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000012.12:g.131941839G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941839G>C Locations: - p.Lys364Asn (Ensembl:ENST00000376649) - c.1092G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs148218985 | 366 | A>S | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000012.12:g.131941843G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941843G>T Locations: - p.Ala366Ser (Ensembl:ENST00000376649) - c.1096G>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
COSV59036075 rs148218985 | 366 | A>T | Variant of uncertain significance (Ensembl) | cosmic curated ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.44) Somatic: Yes Accession: NC_000012.12:g.131941843G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941843G>A Locations: - p.Ala366Thr (Ensembl:ENST00000376649) - c.1096G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs767334298 | 367 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.229) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131941846G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941846G>C Locations: - p.Ala367Pro (Ensembl:ENST00000376649) - c.1099G>C (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs755892667 | 368 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941849T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941849T>C Locations: - p.Phe368Leu (Ensembl:ENST00000376649) - c.1102T>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1235566459 | 369 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.255) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941852A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941852A>G Locations: - p.Lys369Glu (Ensembl:ENST00000376649) - c.1105A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1891089985 | 371 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.108) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000012.12:g.131941859A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941859A>G Locations: - p.Glu371Gly (Ensembl:ENST00000376649) - c.1112A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs779937264 | 371 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.79) Somatic: No Accession: NC_000012.12:g.131941858G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941858G>A Locations: - p.Glu371Lys (Ensembl:ENST00000376649) - c.1111G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
COSV100435148 | 372 | H>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000012.12:g.131941862A>T Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941862A>T Locations: - c.1115A>T (NCI-TCGA:ENST00000376649) - p.H372L (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV100435148 | 372 | H>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000012.12:g.131941862A>G Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941862A>G Locations: - c.1115A>G (NCI-TCGA:ENST00000376649) - p.H372R (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1169092377 | 372 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.67) - PolyPhen: benign (0.001) - SIFT: tolerated (0.54) Somatic: No Population frequencies: - MAF: 0.000007969 (gnomAD) Accession: NC_000012.12:g.131941861C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941861C>T Locations: - p.H372Y (NCI-TCGA:ENST00000376649) - p.His372Tyr (Ensembl:ENST00000376649) - c.1114C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs140337752 | 373 | I>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.837) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.131941864A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941864A>G Locations: - p.Ile373Val (Ensembl:ENST00000376649) - c.1117A>G (Ensembl:ENST00000376649) Source type: large scale study | |||||||
RCV000853196 rs779193823 | 374 | Y>* | Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.131941869C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941869C>G Locations: - p.Tyr374Ter (Ensembl:ENST00000376649) - c.1122C>G (Ensembl:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study Cross-references: | |||||||
rs755247512 | 374 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131941867T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941867T>C Locations: - p.Tyr374His (Ensembl:ENST00000376649) - c.1120T>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1735911235 | 375 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000012.12:g.131941870C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941870C>T Locations: - p.Pro375Ser (Ensembl:ENST00000376649) - c.1123C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1891091044 | 376 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131941873A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941873A>G Locations: - p.Thr376Ala (Ensembl:ENST00000376649) - c.1126A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs961491264 | 377 | I>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941877T>G Codon: ATC/AGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941877T>G Locations: - p.Ile377Ser (Ensembl:ENST00000376649) - c.1130T>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
RCV001111976 rs200292016 | 377 | I>V | Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.647) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000012.12:g.131941876A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941876A>G Locations: - p.Ile377Val (Ensembl:ENST00000376649) - c.1129A>G (Ensembl:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study Cross-references: | |||||||
rs570364615 | 378 | I>M | Likely benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.155) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131941881C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941881C>G Locations: - p.Ile378Met (Ensembl:ENST00000376649) - c.1134C>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
TCGA novel | 378 | I>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000012.12:g.131941880T>C Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941880T>C Locations: - c.1133T>C (NCI-TCGA:ENST00000376649) - p.I378T (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
CA10632258 RCV000307976 rs886049093 | 379 | G>S | Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.57) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000012.12:g.131941882G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941882G>A Locations: - p.Gly379Ser (Ensembl:ENST00000376649) - c.1135G>A (Ensembl:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study Cross-references: | |||||||
COSV59036476 | 380 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.41) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131941886C>T Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941886C>T Locations: - c.1139C>T (NCI-TCGA:ENST00000376649) - p.T380I (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59034885 rs771293984 | 381 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000007981 (gnomAD) Accession: NC_000012.12:g.131941888G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941888G>A Locations: - p.E381K (NCI-TCGA:ENST00000376649) - p.Glu381Lys (Ensembl:ENST00000376649) - c.1141G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs762658163 | 382 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000012.12:g.131941892G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941892G>A Locations: - p.Arg382Gln (Ensembl:ENST00000376649) - c.1145G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
COSV59036292 rs776910715 | 382 | R>W | Variant of uncertain significance (Ensembl) | cosmic curated ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.672) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000012.12:g.131941891C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941891C>T Locations: - p.Arg382Trp (Ensembl:ENST00000376649) - c.1144C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1485237230 | 383 | D>N | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000012.12:g.131941894G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941894G>A Locations: - p.Asp383Asn (Ensembl:ENST00000376649) - c.1147G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs138150733 | 384 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.425) - SIFT: deleterious (0.03) - PolyPhen: benign (0.42) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00000799 (gnomAD) Accession: NC_000012.12:g.131941897G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941897G>A Locations: - p.E384K (NCI-TCGA:ENST00000376649) - p.Glu384Lys (Ensembl:ENST00000376649) - c.1150G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs138150733 | 384 | E>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.551) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.131941897G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941897G>C Locations: - p.Glu384Gln (Ensembl:ENST00000376649) - c.1150G>C (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs368258455 | 385 | R>C | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941900C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941900C>T Locations: - p.Arg385Cys (Ensembl:ENST00000376649) - c.1153C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs368258455 | 385 | R>G | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000012.12:g.131941900C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941900C>G Locations: - p.Arg385Gly (Ensembl:ENST00000376649) - c.1153C>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs566070845 | 385 | R>H | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000012.12:g.131941901G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941901G>A Locations: - p.Arg385His (Ensembl:ENST00000376649) - c.1154G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs566070845 | 385 | R>L | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000012.12:g.131941901G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941901G>T Locations: - p.Arg385Leu (Ensembl:ENST00000376649) - c.1154G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs760594871 | 386 | S>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131941904C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941904C>G Locations: - p.Ser386Cys (Ensembl:ENST00000376649) - c.1157C>G (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs760594871 | 386 | S>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941904C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941904C>A Locations: - p.Ser386Tyr (Ensembl:ENST00000376649) - c.1157C>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1322152785 | 387 | M>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941908G>A, NC_000012.12:g.131941908G>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941908G>A, NC_000012.12:g.131941908G>T Locations: - p.Met387Ile (Ensembl:ENST00000376649) - c.1161G>A (Ensembl:ENST00000376649) - c.1161G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs766344359 | 387 | M>V | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.697) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941906A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941906A>G Locations: - p.Met387Val (Ensembl:ENST00000376649) - c.1159A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
RCV000979386 RCV001274965 rs753674809 | 389 | Q>R | Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.17) Somatic: No Population frequencies: - MAF: 0.00032 (ClinVar) Accession: NC_000012.12:g.131941913A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941913A>G Locations: - p.Gln389Arg (Ensembl:ENST00000376649) - c.1166A>G (Ensembl:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study Cross-references: | |||||||
rs1375323692 | 390 | W>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941915T>G Codon: TGG/GGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941915T>G Locations: - p.Trp390Gly (Ensembl:ENST00000376649) - c.1168T>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs752927449 | 393 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.574) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941924A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941924A>G Locations: - p.Thr393Ala (Ensembl:ENST00000376649) - c.1177A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59035860 rs752927449 | 393 | T>P | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.131941924A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941924A>C Locations: - p.Thr393Pro (Ensembl:ENST00000376649) - c.1177A>C (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs777855615 | 394 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941929G>C Codon: TTG/TTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941929G>C Locations: - p.Leu394Phe (Ensembl:ENST00000376649) - c.1182G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs2136444708 | 395 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.469) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941931C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941931C>G Locations: - p.Pro395Arg (Ensembl:ENST00000376649) - c.1184C>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs781592324 | 398 | N>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000012.12:g.131941939A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941939A>G Locations: - p.Asn398Asp (Ensembl:ENST00000376649) - c.1192A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1891095909 | 399 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.809) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941942T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941942T>C Locations: - p.Phe399Leu (Ensembl:ENST00000376649) - c.1195T>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs768336878 | 400 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000012.12:g.131941946G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941946G>A Locations: - p.Ser400Asn (Ensembl:ENST00000376649) - c.1199G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs773905517 | 401 | A>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000012.12:g.131941949C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941949C>T Locations: - p.Ala401Val (Ensembl:ENST00000376649) - c.1202C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1282186330 | 402 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.144) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.131941952C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941952C>T Locations: - p.Thr402Ile (Ensembl:ENST00000376649) - c.1205C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1593297095 | 402 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941951A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941951A>C Locations: - p.Thr402Pro (Ensembl:ENST00000376649) - c.1204A>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs771486572 | 403 | A>P | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.131941954G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941954G>C Locations: - p.Ala403Pro (Ensembl:ENST00000376649) - c.1207G>C (Ensembl:ENST00000376649) Source type: large scale study | |||||||
COSV100435255 | 403 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated - low confidence (0.16) Somatic: Yes Accession: NC_000012.12:g.131941954G>T Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941954G>T Locations: - c.1207G>T (NCI-TCGA:ENST00000376649) - p.A403S (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV100435255 rs771486572 | 403 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0.04) - PolyPhen: benign (0.005) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0.00003657 (gnomAD) Accession: NC_000012.12:g.131941954G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941954G>A Locations: - p.A403T (NCI-TCGA:ENST00000376649) - p.Ala403Thr (Ensembl:ENST00000376649) - c.1207G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1593297107 | 404 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000012.12:g.131941957C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941957C>T Locations: - p.Leu404Phe (Ensembl:ENST00000376649) - c.1210C>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs149378338 | 405 | T>K | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.74) Somatic: No Accession: NC_000012.12:g.131941961C>A Codon: ACG/AAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941961C>A Locations: - p.Thr405Lys (Ensembl:ENST00000376649) - c.1214C>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV105825837 RCV000757709 RCV001111978 RCV001825501 rs149378338 | 405 | T>M | Myopathy, lactic acidosis, and sideroblastic anemia (ClinVar) Myopathy, lactic acidosis, and sideroblastic anemia 1 (ClinVar) | Benign (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.11) Somatic: Yes Population frequencies: - MAF: 0.0012 (ClinVar) Accession: NC_000012.12:g.131941961C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941961C>T Locations: - p.Thr405Met (Ensembl:ENST00000376649) - c.1214C>T (Ensembl:ENST00000376649) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study | |||||||
rs149378338 | 405 | T>R | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000012.12:g.131941961C>G Codon: ACG/AGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941961C>G Locations: - p.Thr405Arg (Ensembl:ENST00000376649) - c.1214C>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1891097407 | 407 | G>D | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000012.12:g.131941967G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941967G>A Locations: - p.Gly407Asp (Ensembl:ENST00000376649) - c.1220G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1593297140 | 409 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.74) Somatic: No Accession: NC_000012.12:g.131941972A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941972A>G Locations: - p.Thr409Ala (Ensembl:ENST00000376649) - c.1225A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
CA325068 COSV59035601 RCV000200486 RCV002515428 rs761064906 | 409 | T>M | Likely benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: tolerated (0.11) Somatic: Yes Population frequencies: - MAF: 0.00006 (ClinVar) Accession: NC_000012.12:g.131941973C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941973C>T Locations: - p.Thr409Met (Ensembl:ENST00000376649) - c.1226C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs765071904 | 410 | G>C | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.131941975G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941975G>T Locations: - p.Gly410Cys (Ensembl:ENST00000376649) - c.1228G>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
COSV59034693 rs758584053 | 411 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.71) - PolyPhen: benign (0) - SIFT: tolerated (0.56) Somatic: Yes Population frequencies: - MAF: 0.0000124 (gnomAD) Accession: NC_000012.12:g.131941978G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941978G>A Locations: - p.A411T (NCI-TCGA:ENST00000376649) - p.Ala411Thr (Ensembl:ENST00000376649) - c.1231G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1432582408 | 412 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000012.12:g.131941981A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941981A>G Locations: - p.Lys412Glu (Ensembl:ENST00000376649) - c.1234A>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1160133342 | 412 | K>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.369) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.131941982A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941982A>T Locations: - p.Lys412Met (Ensembl:ENST00000376649) - c.1235A>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs767309304 | 412 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000012.12:g.131941983G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131941983G>C Locations: - p.Lys412Asn (Ensembl:ENST00000376649) - c.1236G>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1891180452 | 413 | V>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000012.12:g.131943540T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131943540T>G Locations: - p.Val413Gly (Ensembl:ENST00000376649) - c.1238T>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs761914681 | 413 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.266) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000012.12:g.131943539G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131943539G>A Locations: - p.Val413Met (Ensembl:ENST00000376649) - c.1237G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs750941638 | 414 | P>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000012.12:g.131943542C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131943542C>G Locations: - p.Pro414Ala (Ensembl:ENST00000376649) - c.1240C>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs756609446 | 416 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000012.12:g.131943548C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131943548C>T Locations: - p.Pro416Ser (Ensembl:ENST00000376649) - c.1246C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs756609446 | 416 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000012.12:g.131943548C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131943548C>A Locations: - p.Pro416Thr (Ensembl:ENST00000376649) - c.1246C>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
COSV100435287 | 418 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.21) Somatic: Yes Accession: NC_000012.12:g.131943556A>T Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131943556A>T Locations: - c.1254A>T (NCI-TCGA:ENST00000376649) - p.E418D (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV100435310 | 418 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.18) Somatic: Yes Accession: NC_000012.12:g.131943554G>A Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131943554G>A Locations: - c.1252G>A (NCI-TCGA:ENST00000376649) - p.E418K (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1001967684 | 419 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000012.12:g.131943558G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131943558G>A Locations: - p.Gly419Asp (Ensembl:ENST00000376649) - c.1256G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1001967684 | 419 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.131943558G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131943558G>T Locations: - p.Gly419Val (Ensembl:ENST00000376649) - c.1256G>T (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs780339182 | 422 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000012.12:g.131943567G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131943567G>A Locations: - p.Gly422Glu (Ensembl:ENST00000376649) - c.1265G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
TCGA novel | 423 | D>T | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000012.12:g.131943566del Consequence type: frameshift Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131943566del Locations: - c.1267del (NCI-TCGA:ENST00000376649) - p.D423Tfs*123 (NCI-TCGA:ENST00000376649) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs750124736 | 424 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.083) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000012.12:g.131943573G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131943573G>A Locations: - p.Gly424Glu (Ensembl:ENST00000376649) - c.1271G>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
COSV59035074 rs548416202 | 424 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.291) - SIFT: tolerated - low confidence (0.09) - PolyPhen: benign (0.287) - SIFT: tolerated - low confidence (0.05) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000012.12:g.131943572G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131943572G>A Locations: - p.G424R (NCI-TCGA:ENST00000376649) - p.Gly424Arg (Ensembl:ENST00000376649) - c.1270G>A (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs374824851 | 426 | T>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.076) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.131943579C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131943579C>T Locations: - p.Thr426Ile (Ensembl:ENST00000376649) - c.1277C>T (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs2136447319 | 427 | D>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.131943582A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131943582A>C Locations: - p.Asp427Ala (Ensembl:ENST00000376649) - c.1280A>C (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs781173597 | 427 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000012.12:g.131943583_131943586del Codon: ACTGACTGA/ACTGA Consequence type: stop lost Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131943583_131943586del Locations: - p.Asp427GlufsTer118 (Ensembl:ENST00000376649) - c.1281_1284del (Ensembl:ENST00000376649) Source type: large scale study | |||||||
rs1267879171 | 427 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.131943583C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131943583C>G Locations: - p.Asp427Glu (Ensembl:ENST00000376649) - c.1281C>G (Ensembl:ENST00000376649) Source type: large scale study Cross-references: | |||||||
rs1338105589 | 428 | *>R | TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000012.12:g.131943584T>A Codon: TGA/AGA Consequence type: stop lost Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131943584T>A Locations: - p.Ter428ArgextTer11 (Ensembl:ENST00000376649) - c.1282T>A (Ensembl:ENST00000376649) Source type: large scale study Cross-references: |