F8W9U5 · F8W9U5_HUMAN
- ProteinPseudouridine synthase 1
- GenePUS1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids156 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1406747461 | 2 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) 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.Ala2Val (Ensembl:ENST00000456665) - c.5C>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1303802812 | 3 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.13) 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.Gly3Glu (Ensembl:ENST00000456665) - c.8G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1162326833 | 3 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) 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.Gly3Arg (Ensembl:ENST00000456665) - c.7G>C (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
COSV105226087 rs1593286227 | 4 | N>D | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.09) 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.Asn4Asp (Ensembl:ENST00000456665) - c.10A>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1593286235 | 4 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.08) 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.Asn4Ser (Ensembl:ENST00000456665) - c.11A>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1391918656 | 7 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.02) 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.Pro7Leu (Ensembl:ENST00000456665) - c.20C>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1391918656 | 7 | P>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) 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.Pro7Gln (Ensembl:ENST00000456665) - c.20C>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs561744467 | 9 | P>L | Benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) 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.Pro9Leu (Ensembl:ENST00000456665) - c.26C>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
COSV105894344 RCV000941641 RCV001274955 rs561744467 | 9 | 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: unknown (0) - SIFT: tolerated - low confidence (0.11) 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.Pro9Arg (Ensembl:ENST00000456665) - c.26C>G (Ensembl:ENST00000456665) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study | |||||||
rs774641249 | 10 | A>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.15) 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.Ala10Asp (Ensembl:ENST00000456665) - c.29C>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs769032481 | 10 | A>T | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.15) 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.Ala10Thr (Ensembl:ENST00000456665) - c.28G>A (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs774641249 | 10 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.46) 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.Ala10Val (Ensembl:ENST00000456665) - c.29C>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs199950927 | 11 | G>A | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.53) 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.Gly11Ala (Ensembl:ENST00000456665) - c.32G>C (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs199950927 | 11 | G>E | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) 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.Gly11Glu (Ensembl:ENST00000456665) - c.32G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs760384342 | 11 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.09) 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.Gly11Arg (Ensembl:ENST00000456665) - c.31G>A (Ensembl:ENST00000456665) - c.31G>C (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs2136429017 | 12 | A>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.22) 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.Ala12Gly (Ensembl:ENST00000456665) - c.35C>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs776265402 | 13 | A>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.36) 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.Ala13Ser (Ensembl:ENST00000456665) - c.37G>T (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs776265402 | 13 | A>T | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.24) 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.Ala13Thr (Ensembl:ENST00000456665) - c.37G>A (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs1326220015 | 13 | A>V | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.2) 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.Ala13Val (Ensembl:ENST00000456665) - c.38C>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs758949898 | 14 | C>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.05) 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.Cys14Phe (Ensembl:ENST00000456665) - c.41G>T (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs758949898 | 14 | C>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.04) 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.Cys14Tyr (Ensembl:ENST00000456665) - c.41G>A (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs1343233524 | 15 | P>H | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.11) 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.Pro15His (Ensembl:ENST00000456665) - c.44C>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
RCV001658757 RCV001827563 RCV002282569 RCV002539612 rs928144275 | 15 | 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: unknown (0) - SIFT: tolerated - low confidence (0.32) 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.Pro15Ser (Ensembl:ENST00000456665) - c.43C>T (Ensembl:ENST00000456665) Disease association: - Inborn genetic diseases - Myopathy, lactic acidosis, and sideroblastic anemia Source type: large scale study | |||||||
rs1890514740 | 17 | D>G | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.549) - SIFT: tolerated - low confidence (0.1) 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.Asp17Gly (Ensembl:ENST00000456665) - c.50A>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1593286306 | 17 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.468) - SIFT: tolerated - low confidence (0.06) 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.Asp17Asn (Ensembl:ENST00000456665) - c.49G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1890514740 | 17 | D>V | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.737) - SIFT: tolerated - low confidence (0.08) 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.Asp17Val (Ensembl:ENST00000456665) - c.50A>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs765257355 | 18 | R>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.076) - SIFT: deleterious - low confidence (0.05) 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.Arg18Gly (Ensembl:ENST00000456665) - c.52C>G (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs752709725 | 18 | R>P | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.148) - SIFT: deleterious - low confidence (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.Arg18Pro (Ensembl:ENST00000456665) - c.53G>C (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs752709725 | 18 | R>Q | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: deleterious - low confidence (0.04) 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.Arg18Gln (Ensembl:ENST00000456665) - c.53G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
CA319955 RCV000195596 RCV001274956 rs765257355 | 18 | 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 (0.545) - SIFT: deleterious - low confidence (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.Arg18Trp (Ensembl:ENST00000456665) - c.52C>T (Ensembl:ENST00000456665) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study | |||||||
rs2136429099 | 19 | R>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.471) - SIFT: deleterious - low confidence (0.02) 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.Arg19Met (Ensembl:ENST00000456665) - c.56G>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1380697238 | 20 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.131) - SIFT: deleterious - low confidence (0.03) 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.Ser20Phe (Ensembl:ENST00000456665) - c.59C>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs2136429116 | 20 | S>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated - low confidence (0.41) 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.Ser20Thr (Ensembl:ENST00000456665) - c.58T>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1372393655 | 22 | S>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: tolerated - low confidence (0.22) 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.Ser22Gly (Ensembl:ENST00000456665) - c.64A>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs958305870 | 23 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: deleterious - low confidence (0.03) 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.Gly23Asp (Ensembl:ENST00000456665) - c.68G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1245257533 | 23 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.18) 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.Gly23Ser (Ensembl:ENST00000456665) - c.67G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs958305870 | 23 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0.02) 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.Gly23Val (Ensembl:ENST00000456665) - c.68G>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1461363494 | 24 | R>L | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.31) 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.Arg24Leu (Ensembl:ENST00000456665) - c.71G>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1461363494 | 24 | R>Q | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated - low confidence (0.59) 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.Arg24Gln (Ensembl:ENST00000456665) - c.71G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs2136429163 | 24 | R>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.3) 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.Arg24Trp (Ensembl:ENST00000456665) - c.70C>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs773571665 | 25 | A>T | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated - low confidence (0.31) 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.Ala25Thr (Ensembl:ENST00000456665) - c.73G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs751332234 | 25 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated - low confidence (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.Ala25Val (Ensembl:ENST00000456665) - c.74C>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs750562665 | 26 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.08) 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.G26R (NCI-TCGA:ENST00000456665) - p.Gly26Arg (Ensembl:ENST00000456665) - c.76G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs750562665 | 26 | G>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.874) - SIFT: deleterious - low confidence (0) 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.Gly26Trp (Ensembl:ENST00000456665) - c.76G>T (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs756181706 | 27 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.09) 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.Gly27Val (Ensembl:ENST00000456665) - c.80G>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs769085511 | 28 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.551) - SIFT: tolerated - low confidence (0.09) 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.Asp28His (Ensembl:ENST00000456665) - c.82G>C (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1890517028 | 29 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.743) - SIFT: deleterious - low confidence (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.Arg29Cys (Ensembl:ENST00000456665) - c.85C>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1890517215 | 29 | R>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: deleterious - low confidence (0.01) 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.Arg29Leu (Ensembl:ENST00000456665) - c.86G>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1890517028 | 29 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: deleterious - low confidence (0.04) 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.Arg29Ser (Ensembl:ENST00000456665) - c.85C>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1290107500 | 30 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.32) 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.Val30Ile (Ensembl:ENST00000456665) - c.88G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1483413278 | 33 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.853) - 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.Asp33His (Ensembl:ENST00000456665) - c.97G>C (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1483413278 | 33 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.472) - SIFT: tolerated (0.34) 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.Asp33Asn (Ensembl:ENST00000456665) - c.97G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
CA321900 RCV000197433 rs863224174 | 34 | G>E | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - 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.Gly34Glu (Ensembl:ENST00000456665) - c.101G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs966727626 | 34 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.167) - SIFT: deleterious (0.03) 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.Gly34Arg (Ensembl:ENST00000456665) - c.100G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
CA322126 RCV000197669 RCV001274957 rs770669291 | 36 | 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 (0.35) - SIFT: deleterious (0.04) 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.His36Tyr (Ensembl:ENST00000456665) - c.106C>T (Ensembl:ENST00000456665) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study | |||||||
rs2136429314 | 37 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.31) 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.Pro37Leu (Ensembl:ENST00000456665) - c.110C>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs776118682 | 37 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.68) 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.Pro37Ser (Ensembl:ENST00000456665) - c.109C>T (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs759184818 | 38 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.09) 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.Ala38Pro (Ensembl:ENST00000456665) - c.112G>C (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs759184818 | 38 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.17) - SIFT: tolerated (0.18) 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.Ala38Ser (Ensembl:ENST00000456665) - c.112G>T (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs759184818 | 38 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.19) 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.Ala38Thr (Ensembl:ENST00000456665) - c.112G>A (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs1341037097 | 41 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - 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.Leu41Pro (Ensembl:ENST00000456665) - c.122T>C (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1351804209 | 42 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.498) - SIFT: tolerated (0.06) 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.Lys42Glu (Ensembl:ENST00000456665) - c.124A>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs751427304 | 42 | K>N | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.816) - SIFT: deleterious (0) 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.Lys42Asn (Ensembl:ENST00000456665) - c.126G>C (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs760487019 | 43 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.21) 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.Ser43Asn (Ensembl:ENST00000456665) - c.128G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs760487019 | 43 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: tolerated (0.47) 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.Ser43Thr (Ensembl:ENST00000456665) - c.128G>C (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs201886236 | 44 | G>A | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.111) - SIFT: tolerated (0.24) 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.Gly44Ala (Ensembl:ENST00000456665) - c.131G>C (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs201886236 | 44 | G>D | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.85) 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.Gly44Asp (Ensembl:ENST00000456665) - c.131G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs750634830 | 44 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.303) - SIFT: tolerated (0.12) 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.Gly44Arg (Ensembl:ENST00000456665) - c.130G>C (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs750634830 | 44 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.64) 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.Gly44Ser (Ensembl:ENST00000456665) - c.130G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
CA321775 RCV000197320 RCV002517251 RCV004020416 rs755540245 | 45 | G>D | Inborn genetic diseases (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.42) 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.Gly45Asp (Ensembl:ENST00000456665) - c.134G>A (Ensembl:ENST00000456665) Disease association: - Inborn genetic diseases Source type: large scale study | |||||||
rs753915002 | 45 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.36) 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.Gly45Ser (Ensembl:ENST00000456665) - c.133G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs779372885 | 46 | D>E | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.52) 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.Asp46Glu (Ensembl:ENST00000456665) - c.138C>G (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs1890524580 | 47 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.23) 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.Glu47Gly (Ensembl:ENST00000456665) - c.140A>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1890524431 | 47 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.112) - SIFT: tolerated (0.14) 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.Glu47Lys (Ensembl:ENST00000456665) - c.139G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
RCV001047829 rs1890524790 | 47-48 | 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.Glu47_Glu48delinsAspTer (Ensembl:ENST00000456665) - c.141_142delinsTT (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs748588884 | 48 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.351) - SIFT: deleterious (0.03) 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.Glu48Lys (Ensembl:ENST00000456665) - c.142G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1468033121 | 49 | R>G | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.25) 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.Arg49Gly (Ensembl:ENST00000456665) - c.145C>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs11554175 | 49 | R>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.2) 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.Arg49Leu (Ensembl:ENST00000456665) - c.146G>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs11554175 | 49 | R>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (1) 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.Arg49Gln (Ensembl:ENST00000456665) - c.146G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs745516363 | 50 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: tolerated (0.24) 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.Arg50Gly (Ensembl:ENST00000456665) - c.148C>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs769500095 | 50 | R>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.43) 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.Arg50His (Ensembl:ENST00000456665) - c.149G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs775206847 | 51 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - 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.Glu51Lys (Ensembl:ENST00000456665) - c.151G>A (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs748792895 | 53 | P>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.75) 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.Pro53Leu (Ensembl:ENST00000456665) - c.158C>T (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs748792895 | 53 | P>Q | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.34) - SIFT: tolerated (0.27) 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.Pro53Gln (Ensembl:ENST00000456665) - c.158C>A (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs2136429463 | 53 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: tolerated (0.39) 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.Pro53Ser (Ensembl:ENST00000456665) - c.157C>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs768762075 | 54 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.898) - SIFT: tolerated (0.06) 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.P54S (NCI-TCGA:ENST00000456665) - p.Pro54Ser (Ensembl:ENST00000456665) - c.160C>T (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs1339710431 | 56 | R>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) 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.Arg56Trp (Ensembl:ENST00000456665) - c.166C>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1566139531 | 57 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - 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.Lys57Arg (Ensembl:ENST00000456665) - c.170A>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1890529298 | 58 | I>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.739) - 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.Ile58Asn (Ensembl:ENST00000456665) - c.173T>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs761763887 | 60 | L>V | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.907) - SIFT: deleterious (0.04) 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.Leu60Val (Ensembl:ENST00000456665) - c.178C>G (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs772993946 | 62 | M>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.85) 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.Met62Leu (Ensembl:ENST00000456665) - c.184A>C (Ensembl:ENST00000456665) - c.184A>T (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs1890530186 | 62 | M>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.409) - 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.Met62Thr (Ensembl:ENST00000456665) - c.185T>C (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1890530325 | 63 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious (0.02) 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.Ala63Thr (Ensembl:ENST00000456665) - c.187G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs760954320 | 63 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.702) - SIFT: deleterious (0.03) 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.Ala63Val (Ensembl:ENST00000456665) - c.188C>T (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs770872085 | 64 | 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.Tyr64Ter (Ensembl:ENST00000456665) - c.192T>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs766578830 | 64 | Y>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.681) - SIFT: deleterious (0.01) 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.Tyr64Phe (Ensembl:ENST00000456665) - c.191A>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs2136429544 | 64 | Y>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - 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.Tyr64Asn (Ensembl:ENST00000456665) - c.190T>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1890531041 | 65 | S>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - 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.Ser65Trp (Ensembl:ENST00000456665) - c.194C>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1483951211 | 66 | 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.Gly66Asp (Ensembl:ENST00000456665) - c.197G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1483951211 | 66 | 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.Gly66Val (Ensembl:ENST00000456665) - c.197G>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
RCV001111872 RCV002556180 rs143828069 | 68 | 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: probably damaging (0.991) - SIFT: deleterious (0.02) 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.Gly68Asp (Ensembl:ENST00000456665) - c.203G>A (Ensembl:ENST00000456665) Disease association: - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study | |||||||
rs1890532082 | 70 | H>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.45) 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.His70Tyr (Ensembl:ENST00000456665) - c.208C>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs868582827 | 71 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - 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.Gly71Asp (Ensembl:ENST00000456665) - c.212G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1890532347 | 71 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) 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.Gly71Ser (Ensembl:ENST00000456665) - c.211G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs765322789 | 72 | M>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - 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.Met72Lys (Ensembl:ENST00000456665) - c.215T>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs765322789 | 72 | M>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - 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.Met72Arg (Ensembl:ENST00000456665) - c.215T>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
RCV001246289 rs1048018914 | 73 | 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.Gln73Ter (Ensembl:ENST00000456665) - c.217C>T (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs1890631077 | 75 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.951) - 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.Asn75Ser (Ensembl:ENST00000456665) - c.224A>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1334900934 | 76 | V>D | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.271) - SIFT: deleterious (0.04) 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.Val76Asp (Ensembl:ENST00000456665) - c.227T>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs764547759 | 77 | G>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - 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.Gly77Ala (Ensembl:ENST00000456665) - c.230G>C (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs763065931 | 77 | G>R | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.599) - 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.Gly77Arg (Ensembl:ENST00000456665) - c.229G>A (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs1593288596 | 78 | S>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.685) - SIFT: deleterious (0.03) 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.Ser78Ala (Ensembl:ENST00000456665) - c.232T>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
COSV59036298 rs1890631828 | 78 | S>F | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - 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.Ser78Phe (Ensembl:ENST00000456665) - c.233C>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1890632161 | 80 | 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.Gln80Ter (Ensembl:ENST00000456665) - c.238C>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs762359807 | 82 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.09) 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.Lys82Glu (Ensembl:ENST00000456665) - c.244A>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1478631298 | 83 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - 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.Thr83Ala (Ensembl:ENST00000456665) - c.247A>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1287386095 | 84 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.02) 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.Ile84Val (Ensembl:ENST00000456665) - c.250A>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs750814179 | 86 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.234) - SIFT: tolerated (0.07) 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.Asp86Glu (Ensembl:ENST00000456665) - c.258T>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs768000451 | 86 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.219) - SIFT: tolerated (0.07) 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.Asp86Gly (Ensembl:ENST00000456665) - c.257A>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1242866089 | 86 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.924) - SIFT: deleterious (0.03) 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.Asp86Asn (Ensembl:ENST00000456665) - c.256G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1352002560 | 87 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - 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.Asp87Asn (Ensembl:ENST00000456665) - c.259G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1352002560 | 87 | D>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - 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.Asp87Tyr (Ensembl:ENST00000456665) - c.259G>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs149011160 | 88 | L>M | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - 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.Leu88Met (Ensembl:ENST00000456665) - c.262T>A (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs752193182 | 88 | L>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - 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.Leu88Ser (Ensembl:ENST00000456665) - c.263T>C (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs149011160 | 88 | L>V | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) 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.Leu88Val (Ensembl:ENST00000456665) - c.262T>G (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs1228571078 | 89 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - 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.Val89Ala (Ensembl:ENST00000456665) - c.266T>C (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs372191433 | 90 | S>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.903) - SIFT: deleterious (0.01) 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.Ser90Pro (Ensembl:ENST00000456665) - c.268T>C (Ensembl:ENST00000456665) Source type: large scale study | |||||||
COSV59036252 rs770785029 | 93 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.181) - SIFT: tolerated (0.12) 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.V93I (NCI-TCGA:ENST00000456665) - p.Val93Ile (Ensembl:ENST00000456665) - c.277G>A (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs142954643 | 94 | 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.Arg94Gly (Ensembl:ENST00000456665) - c.280C>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
RCV001112334 RCV002558120 RCV003163261 rs199863621 | 94 | 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 (0.66) 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.Arg94Gln (Ensembl:ENST00000456665) - c.281G>A (Ensembl:ENST00000456665) Disease association: - Inborn genetic diseases - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: large scale study | |||||||
rs142954643 | 94 | R>W | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.886) - 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.Arg94Trp (Ensembl:ENST00000456665) - c.280C>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs763044473 | 96 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) 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.Gly96Ser (Ensembl:ENST00000456665) - c.286G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs768802173 | 96 | G>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - 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.Gly96Val (Ensembl:ENST00000456665) - c.287G>T (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs1215793177 | 98 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - 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.Ile98Met (Ensembl:ENST00000456665) - c.294T>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs745620984 | 98 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.783) - SIFT: tolerated (0.1) 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.Ile98Val (Ensembl:ENST00000456665) - c.292A>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1424686895 | 100 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.491) - SIFT: deleterious (0.02) 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.Glu100Lys (Ensembl:ENST00000456665) - c.298G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1416215558 | 101 | N>K | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.539) - SIFT: deleterious (0) 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.Asn101Lys (Ensembl:ENST00000456665) - c.303T>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
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) - p.Gln73Arg (Ensembl:ENST00000456665) - c.218A>G (Ensembl:ENST00000456665) Disease association: - Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) Source type: mixed Cross-references: | |||||||
rs764527783 | 101 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: tolerated (0.22) 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.Asn101Ser (Ensembl:ENST00000456665) - c.302A>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs201691654 | 102 | H>D | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.852) - SIFT: deleterious (0) 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.His102Asp (Ensembl:ENST00000456665) - c.304C>G (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs201691654 | 102 | H>Y | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.806) - SIFT: deleterious (0.01) 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.His102Tyr (Ensembl:ENST00000456665) - c.304C>T (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs1890637441 | 104 | E>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.635) - SIFT: deleterious (0.03) 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.Glu104Ala (Ensembl:ENST00000456665) - c.311A>C (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs761073254 | 104 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.635) - SIFT: deleterious (0.01) 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.Glu104Lys (Ensembl:ENST00000456665) - c.310G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs76655496 | 105 | D>Y | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: deleterious (0.01) 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.Asp105Tyr (Ensembl:ENST00000456665) - c.313G>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs752418580 | 106 | M>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.768) - SIFT: deleterious (0.03) 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.Met106Ile (Ensembl:ENST00000456665) - c.318G>A (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs1377937705 | 106 | M>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.181) - SIFT: deleterious (0.02) 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.Met106Leu (Ensembl:ENST00000456665) - c.316A>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
COSV59035541 rs1260785513 | 106 | 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: probably damaging (0.928) - SIFT: deleterious (0.02) 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.M106T (NCI-TCGA:ENST00000456665) - p.Met106Thr (Ensembl:ENST00000456665) - c.317T>C (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs1377937705 | 106 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.748) - SIFT: deleterious (0.01) 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.Met106Val (Ensembl:ENST00000456665) - c.316A>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs757932749 | 107 | R>K | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - 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.Arg107Lys (Ensembl:ENST00000456665) - c.320G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1890638566 | 108 | K>Q | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.905) - SIFT: deleterious (0) 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.Lys108Gln (Ensembl:ENST00000456665) - c.322A>C (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs763595202 | 109 | M>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.927) - SIFT: deleterious (0) 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.Met109Ile (Ensembl:ENST00000456665) - c.327G>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1159793429 | 109 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - 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.Met109Thr (Ensembl:ENST00000456665) - c.326T>C (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs910629778 | 112 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) 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.Gln112Arg (Ensembl:ENST00000456665) - c.335A>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs141178477 | 113 | 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.Arg113Cys (Ensembl:ENST00000456665) - c.337C>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs757238803 | 113 | 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.Arg113His (Ensembl:ENST00000456665) - c.338G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs554459931 | 114 | 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.Cys114Ter (Ensembl:ENST00000456665) - c.342C>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1376269878 | 115 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - 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.Ala115Gly (Ensembl:ENST00000456665) - c.344C>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
COSV100435125 COSV59035032 rs745689913 | 115 | 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 (0.99) - 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.A115T (NCI-TCGA:ENST00000456665) - p.Ala115Thr (Ensembl:ENST00000456665) - c.343G>A (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs1376269878 | 115 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.01) 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.Ala115Val (Ensembl:ENST00000456665) - c.344C>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs104894371 | 116 | R>G | Myopathy, lactic acidosis, and sideroblastic anemia 1 (mlasa1) (Ensembl) | Pathogenic (Ensembl) | ExAC TOPMed gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - 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.Arg116Gly (Ensembl:ENST00000456665) - c.346C>G (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs762199189 | 116 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) 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.Arg116Pro (Ensembl:ENST00000456665) - c.347G>C (Ensembl:ENST00000456665) Source type: large scale study | |||||||
COSV59036551 rs762199189 | 116 | 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 (1) - 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.R116Q (NCI-TCGA:ENST00000456665) - p.Arg116Gln (Ensembl:ENST00000456665) - c.347G>A (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs749537010 | 117 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - 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.Thr117Ala (Ensembl:ENST00000456665) - c.349A>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
COSV104639660 rs146929071 | 117 | 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.Thr117Ile (Ensembl:ENST00000456665) - c.350C>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs146929071 | 117 | 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.Thr117Lys (Ensembl:ENST00000456665) - c.350C>A (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs925207720 | 118 | 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.Asp118Gly (Ensembl:ENST00000456665) - c.353A>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs965795464 | 119 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - 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.Lys119Asn (Ensembl:ENST00000456665) - c.357G>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1593289174 | 122 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.59) Somatic: No Accession: NC_000012.12:g.131932729A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932729A>G Locations: - p.Asp122Gly (Ensembl:ENST00000456665) - c.365A>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs913211663 | 122 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000012.12:g.131932728G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932728G>C Locations: - p.Asp122His (Ensembl:ENST00000456665) - c.364G>C (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs913211663 | 122 | D>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000012.12:g.131932728G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932728G>T Locations: - p.Asp122Tyr (Ensembl:ENST00000456665) - c.364G>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1890661362 | 123 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000012.12:g.131932731C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932731C>T Locations: - p.Leu123Phe (Ensembl:ENST00000456665) - c.367C>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1890661464 | 125 | L>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000012.12:g.131932737C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932737C>A Locations: - p.Leu125Met (Ensembl:ENST00000456665) - c.373C>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs946009537 | 126 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.39) Somatic: No Accession: NC_000012.12:g.131932742G>C Codon: TTG/TTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932742G>C Locations: - p.Leu126Phe (Ensembl:ENST00000456665) - c.378G>C (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1890661830 | 127 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000012.12:g.131932744C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932744C>T Locations: - p.Pro127Leu (Ensembl:ENST00000456665) - c.380C>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1391855674 | 127 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000012.12:g.131932743C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932743C>A Locations: - p.Pro127Thr (Ensembl:ENST00000456665) - c.379C>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1164656714 | 128 | R>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000012.12:g.131932746A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932746A>G Locations: - p.Arg128Gly (Ensembl:ENST00000456665) - c.382A>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1456039954 | 128 | R>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000012.12:g.131932747G>T Codon: AGG/ATG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932747G>T Locations: - p.Arg128Met (Ensembl:ENST00000456665) - c.383G>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1890662131 | 129 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.57) Somatic: No Accession: NC_000012.12:g.131932749C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932749C>G Locations: - p.Leu129Val (Ensembl:ENST00000456665) - c.385C>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1333515057 | 131 | C>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.74) Somatic: No Accession: NC_000012.12:g.131932755T>A Codon: TGC/AGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932755T>A Locations: - p.Cys131Ser (Ensembl:ENST00000456665) - c.391T>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1890662598 | 132 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000012.12:g.131932759G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932759G>A Locations: - p.Ser132Asn (Ensembl:ENST00000456665) - c.395G>A (Ensembl:ENST00000456665) 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) - p.Asp105Asn (Ensembl:ENST00000456665) - c.313G>A (Ensembl:ENST00000456665) Disease association: - Inborn mitochondrial myopathy - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) - PUS1-related disorder Source type: mixed Cross-references: | |||||||
rs1890662871 | 134 | M>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000012.12:g.131932766G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932766G>A Locations: - p.Met134Ile (Ensembl:ENST00000456665) - c.402G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1890663117 | 135 | I>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.677) - SIFT: tolerated - low confidence (0.54) Somatic: No Accession: NC_000012.12:g.131932769C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932769C>G Locations: - p.Ile135Met (Ensembl:ENST00000456665) - c.405C>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1400174342 | 135 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.236) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000012.12:g.131932768T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932768T>C Locations: - p.Ile135Thr (Ensembl:ENST00000456665) - c.404T>C (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1040692139 | 136 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.5) Somatic: No Accession: NC_000012.12:g.131932772G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932772G>A Locations: - p.Met136Ile (Ensembl:ENST00000456665) - c.408G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1890663276 | 136 | M>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.72) Somatic: No Accession: NC_000012.12:g.131932770A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932770A>T Locations: - p.Met136Leu (Ensembl:ENST00000456665) - c.406A>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs2136433078 | 138 | H>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000012.12:g.131932777A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932777A>C Locations: - p.His138Pro (Ensembl:ENST00000456665) - c.413A>C (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1593289207 | 138 | H>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000012.12:g.131932778C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932778C>G Locations: - p.His138Gln (Ensembl:ENST00000456665) - c.414C>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1333468020 | 142 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000012.12:g.131932790A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932790A>T Locations: - p.Lys142Asn (Ensembl:ENST00000456665) - c.426A>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs901711632 | 142 | K>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000012.12:g.131932788A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932788A>C Locations: - p.Lys142Gln (Ensembl:ENST00000456665) - c.424A>C (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
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) - p.Arg116Trp (Ensembl:ENST00000456665) - c.346C>T (Ensembl:ENST00000456665) Disease association: - Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) - Myopathy, lactic acidosis, and sideroblastic anemia 1 (MLASA1) Source type: mixed | |||||||
rs1890664892 | 145 | G>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.074) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000012.12:g.131932797G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932797G>T Locations: - p.Gly145Cys (Ensembl:ENST00000456665) - c.433G>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1890665020 | 145 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000012.12:g.131932798G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932798G>A Locations: - p.Gly145Asp (Ensembl:ENST00000456665) - c.434G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1890664892 | 145 | G>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000012.12:g.131932797G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932797G>A Locations: - p.Gly145Ser (Ensembl:ENST00000456665) - c.433G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1340943878 | 146 | S>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.091) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000012.12:g.131932801C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932801C>T Locations: - p.Ser146Leu (Ensembl:ENST00000456665) - c.437C>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1890665377 | 147 | S>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000012.12:g.131932805C>A, NC_000012.12:g.131932805C>G Codon: AGC/AGA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932805C>A, NC_000012.12:g.131932805C>G Locations: - p.Ser147Arg (Ensembl:ENST00000456665) - c.441C>A (Ensembl:ENST00000456665) - c.441C>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1450017610 | 148 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.13) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.131932806A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932806A>G Locations: - p.Asn148Asp (Ensembl:ENST00000456665) - c.442A>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1206680733 | 148 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000012.12:g.131932808T>A Codon: AAT/AAA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932808T>A Locations: - p.Asn148Lys (Ensembl:ENST00000456665) - c.444T>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1192301959 | 148 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000012.12:g.131932807A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932807A>G Locations: - p.Asn148Ser (Ensembl:ENST00000456665) - c.443A>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1276031210 | 149 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.131932810C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932810C>T Locations: - p.Pro149Leu (Ensembl:ENST00000456665) - c.446C>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1262340889 | 149 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.131932809C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932809C>T Locations: - p.Pro149Ser (Ensembl:ENST00000456665) - c.445C>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs750394088 | 150 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.131932813C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932813C>T Locations: - p.Pro150Leu (Ensembl:ENST00000456665) - c.449C>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs995975598 | 153 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) Somatic: No Accession: NC_000012.12:g.131932821G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932821G>T Locations: - p.Ala153Ser (Ensembl:ENST00000456665) - c.457G>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1259520711 | 153 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) Somatic: No Accession: NC_000012.12:g.131932822C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932822C>T Locations: - p.Ala153Val (Ensembl:ENST00000456665) - c.458C>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1342267121 | 154 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.109) Somatic: No Accession: NC_000012.12:g.131932825C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932825C>G Locations: - p.Ser154Cys (Ensembl:ENST00000456665) - c.461C>G (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs779966648 | 155 | R>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.131932827C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932827C>T Locations: - p.Arg155Ter (Ensembl:ENST00000456665) - c.463C>T (Ensembl:ENST00000456665) Source type: large scale study | |||||||
rs111307739 | 155 | R>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) Somatic: No Accession: NC_000012.12:g.131932828G>T Codon: CGA/CTA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932828G>T Locations: - p.Arg155Leu (Ensembl:ENST00000456665) - c.464G>T (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs111307739 | 155 | R>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) Somatic: No Accession: NC_000012.12:g.131932828G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932828G>A Locations: - p.Arg155Gln (Ensembl:ENST00000456665) - c.464G>A (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1192038130 | 156 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) Somatic: No Accession: NC_000012.12:g.131932831T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932831T>C Locations: - p.Val156Ala (Ensembl:ENST00000456665) - c.467T>C (Ensembl:ENST00000456665) Source type: large scale study Cross-references: | |||||||
rs1890667109 | 156 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) Somatic: No Accession: NC_000012.12:g.131932830G>C Codon: GTA/CTA Consequence type: missense Cytogenetic band: 12q24.33 Genomic location: NC_000012.12:g.131932830G>C Locations: - p.Val156Leu (Ensembl:ENST00000456665) - c.466G>C (Ensembl:ENST00000456665) Source type: large scale study Cross-references: |