Q8IUX1 · T126B_HUMAN
- ProteinComplex I assembly factor TMEM126B, mitochondrial
- GeneTMEM126B
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids230 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs751189016 | 2 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000011.10:g.85628612T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628612T>C Locations: - p.Val2Ala (Ensembl:ENST00000358867) - c.5T>C (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs751189016 | 2 | V>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.85628612T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628612T>G Locations: - p.Val2Gly (Ensembl:ENST00000358867) - c.5T>G (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs2082139090 | 2 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.85628611G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628611G>A Locations: - p.Val2Met (Ensembl:ENST00000358867) - c.4G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1193858416 | 4 | F>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.194) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.85628618T>G Codon: TTC/TGC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628618T>G Locations: - p.Phe4Cys (Ensembl:ENST00000358867) - c.11T>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1465458622 | 4 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000011.10:g.85628619C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628619C>G Locations: - p.Phe4Leu (Ensembl:ENST00000358867) - c.12C>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1460482885 | 4 | F>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000011.10:g.85628617T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628617T>G Locations: - p.Phe4Val (Ensembl:ENST00000358867) - c.10T>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1193858416 | 4 | F>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000011.10:g.85628618T>A Codon: TTC/TAC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628618T>A Locations: - p.Phe4Tyr (Ensembl:ENST00000358867) - c.11T>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1286171414 | 5 | G>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.193) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000011.10:g.85628621G>C Codon: GGG/GCG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628621G>C Locations: - p.Gly5Ala (Ensembl:ENST00000358867) - c.14G>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
TCGA novel rs2082139928 | 5 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated - low confidence (0.31) - PolyPhen: benign (0.012) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000011.10:g.85628620G>C Codon: GGG/CGG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628620G>C Locations: - p.G5R (NCI-TCGA:ENST00000358867) - p.Gly5Arg (Ensembl:ENST00000358867) - c.13G>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1440439616 | 6 | Y>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.85628625T>G Codon: TAT/TAG Consequence type: stop gained Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628625T>G Locations: - p.Tyr6Ter (Ensembl:ENST00000358867) - c.18T>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1374240547 | 6 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.343) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.85628624A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628624A>G Locations: - p.Tyr6Cys (Ensembl:ENST00000358867) - c.17A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs980963167 | 7 | E>K | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000011.10:g.85628626G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628626G>A Locations: - p.Glu7Lys (Ensembl:ENST00000358867) - c.19G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
RCV001911517 rs980963167 | 7 | E>Q | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.38) Somatic: No Population frequencies: - MAF: 0.00007 (ClinVar) Accession: NC_000011.10:g.85628626G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628626G>C Locations: - p.Glu7Gln (Ensembl:ENST00000358867) - c.19G>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1236273867 | 8 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.312) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000011.10:g.85628629G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628629G>T Locations: - p.Ala8Ser (Ensembl:ENST00000358867) - c.22G>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs900327286 | 8 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000011.10:g.85628630C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628630C>T Locations: - p.Ala8Val (Ensembl:ENST00000358867) - c.23C>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs997327667 | 9 | G>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.944) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000011.10:g.85628633G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628633G>A Locations: - p.Gly9Glu (Ensembl:ENST00000358867) - c.26G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs997327667 | 9 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.891) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.85628633G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628633G>T Locations: - p.Gly9Val (Ensembl:ENST00000358867) - c.26G>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1201758189 | 10 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.85628635A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628635A>G Locations: - p.Thr10Ala (Ensembl:ENST00000358867) - c.28A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1033838730 | 10 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.85628636C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628636C>T Locations: - p.Thr10Ile (Ensembl:ENST00000358867) - c.29C>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1033838730 | 10 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000011.10:g.85628636C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628636C>G Locations: - p.Thr10Ser (Ensembl:ENST00000358867) - c.29C>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs950605295 | 11 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000011.10:g.85628640G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628640G>C Locations: - p.Lys11Asn (Ensembl:ENST00000358867) - c.33G>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs573475998 | 11 | K>T | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.85628639A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628639A>C Locations: - p.Lys11Thr (Ensembl:ENST00000358867) - c.32A>C (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs1212670424 | 12 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.85628642C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628642C>T Locations: - p.Pro12Leu (Ensembl:ENST00000358867) - c.35C>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1212670424 | 12 | P>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000011.10:g.85628642C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628642C>A Locations: - p.Pro12Gln (Ensembl:ENST00000358867) - c.35C>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1212670424 | 12 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000011.10:g.85628642C>G Codon: CCA/CGA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628642C>G Locations: - p.Pro12Arg (Ensembl:ENST00000358867) - c.35C>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2153300533 | 12 | P>S | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000011.10:g.85628641C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628641C>T Locations: - p.Pro12Ser (Ensembl:ENST00000358867) - c.34C>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs540413193 | 13 | R>G | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000011.10:g.85628644A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628644A>G Locations: - p.Arg13Gly (Ensembl:ENST00000358867) - c.37A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082142359 | 13 | R>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000011.10:g.85628646G>T Codon: AGG/AGT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628646G>T Locations: - p.Arg13Ser (Ensembl:ENST00000358867) - c.39G>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1591432864 | 13 | R>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000011.10:g.85628645G>C Codon: AGG/ACG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628645G>C Locations: - p.Arg13Thr (Ensembl:ENST00000358867) - c.38G>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1427037071 | 14 | D>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.37) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000011.10:g.85628647G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628647G>T Locations: - p.Asp14Tyr (Ensembl:ENST00000358867) - c.40G>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1455823848 | 15 | S>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.85628651C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628651C>T Locations: - p.Ser15Leu (Ensembl:ENST00000358867) - c.44C>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1250792149 | 15 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000011.10:g.85628650T>A Codon: TCA/ACA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628650T>A Locations: - p.Ser15Thr (Ensembl:ENST00000358867) - c.43T>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs960817729 | 17 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.454) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000011.10:g.85628656G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628656G>A Locations: - p.Val17Met (Ensembl:ENST00000358867) - c.49G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1194673709 | 18 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000011.10:g.85628659G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628659G>C Locations: - p.Val18Leu (Ensembl:ENST00000358867) - c.52G>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1194673709 | 18 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.223) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.85628659G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628659G>A Locations: - p.Val18Met (Ensembl:ENST00000358867) - c.52G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs779430515 | 20 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.076) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000011.10:g.85628666T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628666T>G Locations: - p.Val20Gly (Ensembl:ENST00000358867) - c.59T>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082143271 | 20 | V>L | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000011.10:g.85628665G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628665G>C Locations: - p.Val20Leu (Ensembl:ENST00000358867) - c.58G>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1565786874 | 21 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000011.10:g.85628669G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628669G>A Locations: - p.Gly21Glu (Ensembl:ENST00000358867) - c.62G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1004531835 | 22 | T>I | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.85628672C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628672C>T Locations: - p.Thr22Ile (Ensembl:ENST00000358867) - c.65C>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1015863100 | 25 | A>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.411) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000011.10:g.85628681C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628681C>A Locations: - p.Ala25Glu (Ensembl:ENST00000358867) - c.74C>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs992246930 | 25 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.183) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.85628680G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628680G>A Locations: - p.Ala25Thr (Ensembl:ENST00000358867) - c.73G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082144284 | 26 | P>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.145) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.85628683C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85628683C>G Locations: - p.Pro26Ala (Ensembl:ENST00000358867) - c.76C>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
COSV100729016 RCV001568157 rs115581134 | 28 | V>A | Benign (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.00399 (ClinVar) Accession: NC_000011.10:g.85631688T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631688T>C Locations: - p.Val28Ala (Ensembl:ENST00000358867) - c.83T>C (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs2153305572 | 30 | K>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.625) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85631694A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631694A>T Locations: - p.Lys30Met (Ensembl:ENST00000358867) - c.89A>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs144210716 | 30 | K>N | ESP ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.152) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85631695G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631695G>C Locations: - p.Lys30Asn (Ensembl:ENST00000358867) - c.90G>C (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs2082299689 | 30 | K>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000011.10:g.85631693A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631693A>C Locations: - p.Lys30Gln (Ensembl:ENST00000358867) - c.88A>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs769843609 | 33 | A>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.85631703C>A Codon: GCA/GAA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631703C>A Locations: - p.Ala33Glu (Ensembl:ENST00000358867) - c.98C>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1187978310 | 34 | S>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000011.10:g.85631706C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631706C>T Locations: - p.Ser34Phe (Ensembl:ENST00000358867) - c.101C>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs972902224 | 35 | M>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.85631709T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631709T>G Locations: - p.Met35Arg (Ensembl:ENST00000358867) - c.104T>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs972902224 | 35 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.85631709T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631709T>C Locations: - p.Met35Thr (Ensembl:ENST00000358867) - c.104T>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs763180872 | 35 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000011.10:g.85631708A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631708A>G Locations: - p.Met35Val (Ensembl:ENST00000358867) - c.103A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs764121091 | 36 | H>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000011.10:g.85631712A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631712A>G Locations: - p.His36Arg (Ensembl:ENST00000358867) - c.107A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1356754012 | 36 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000011.10:g.85631711C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631711C>T Locations: - p.His36Tyr (Ensembl:ENST00000358867) - c.106C>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1259517951 | 38 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.676) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.85631719G>C, NC_000011.10:g.85631719G>T Codon: CAG/CAC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631719G>C, NC_000011.10:g.85631719G>T Locations: - p.Gln38His (Ensembl:ENST00000358867) - c.114G>C (Ensembl:ENST00000358867) - c.114G>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1489230832 | 39 | P>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.348) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000011.10:g.85631721C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631721C>A Locations: - p.Pro39His (Ensembl:ENST00000358867) - c.116C>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
COSV100729020 | 40 | S>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.37) Somatic: Yes Accession: NC_000011.10:g.85631724G>T Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631724G>T Locations: - c.119G>T (NCI-TCGA:ENST00000358867) - p.S40I (NCI-TCGA:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs757074062 | 40 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000011.10:g.85631723A>C Codon: AGT/CGT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631723A>C Locations: - p.Ser40Arg (Ensembl:ENST00000358867) - c.118A>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs774465244 | 41 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000011.10:g.85631727C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631727C>T Locations: - p.Pro41Leu (Ensembl:ENST00000358867) - c.122C>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1565791001 | 41 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.28) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.85631726C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631726C>A Locations: - p.Pro41Thr (Ensembl:ENST00000358867) - c.121C>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs143403924 | 42 | S>C | Likely benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.835) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.85631730C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631730C>G Locations: - p.Ser42Cys (Ensembl:ENST00000358867) - c.125C>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
RCV001569881 RCV003931203 rs143403924 | 42 | S>F | TMEM126B-related disorder (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.17) Somatic: No Population frequencies: - MAF: 0.0004 (ClinVar) Accession: NC_000011.10:g.85631730C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631730C>T Locations: - p.Ser42Phe (Ensembl:ENST00000358867) - c.125C>T (Ensembl:ENST00000358867) Disease association: - TMEM126B-related disorder Source type: large scale study | |||||||
rs2082300779 | 42 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.789) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.85631729T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631729T>C Locations: - p.Ser42Pro (Ensembl:ENST00000358867) - c.124T>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1473965860 | 43 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000011.10:g.85631733T>C Codon: CTA/CCA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631733T>C Locations: - p.Leu43Pro (Ensembl:ENST00000358867) - c.128T>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
TCGA novel | 43 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000011.10:g.85631732C>G Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631732C>G Locations: - c.127C>G (NCI-TCGA:ENST00000358867) - p.L43V (NCI-TCGA:ENST00000358867) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2082301045 | 44 | E>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000011.10:g.85631736A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631736A>T Locations: - p.Glu44Val (Ensembl:ENST00000358867) - c.131A>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
RCV002030722 rs750029897 | 45 | D>H | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.85631738G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631738G>C Locations: - p.Asp45His (Ensembl:ENST00000358867) - c.133G>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs750029897 | 45 | D>Y | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85631738G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631738G>T Locations: - p.Asp45Tyr (Ensembl:ENST00000358867) - c.133G>T (Ensembl:ENST00000358867) Source type: large scale study | |||||||
RCV001329079 RCV002538418 rs764565613 | 46 | A>missing | Mitochondrial complex 1 deficiency, nuclear type 29 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Population frequencies: - MAF: 0.00024 (ClinVar) Accession: NC_000011.10:g.85631742del Consequence type: frameshift Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631742del Locations: - p.Ala46fs (ClinVar:ENST00000358867) Disease association: - Mitochondrial complex 1 deficiency, nuclear type 29 Source type: large scale study | |||||||
rs2082301188 | 46 | A>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.452) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000011.10:g.85631742C>A Codon: GCA/GAA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631742C>A Locations: - p.Ala46Glu (Ensembl:ENST00000358867) - c.137C>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs35174772 | 47 | K>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.862) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.85631745A>T Codon: AAA/ATA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631745A>T Locations: - p.Lys47Ile (Ensembl:ENST00000358867) - c.140A>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs35174772 | 47 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.57) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.85631745A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631745A>G Locations: - p.Lys47Arg (Ensembl:ENST00000358867) - c.140A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082301394 | 49 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000011.10:g.85631750A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631750A>G Locations: - p.Arg49Gly (Ensembl:ENST00000358867) - c.145A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082301450 | 49 | R>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.136) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000011.10:g.85631751G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631751G>A Locations: - p.Arg49Lys (Ensembl:ENST00000358867) - c.146G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs139974357 | 50 | R>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.21) - PolyPhen: benign (0.044) - SIFT: tolerated (0.27) Somatic: No Population frequencies: - MAF: 0.000003989 (gnomAD) Accession: NC_000011.10:g.85631754G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631754G>A Locations: - p.R50K (NCI-TCGA:ENST00000358867) - p.Arg50Lys (Ensembl:ENST00000358867) - c.149G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs766117185 | 50 | R>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000011.10:g.85631755A>T, NC_000011.10:g.85631755A>C Codon: AGA/AGT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631755A>T, NC_000011.10:g.85631755A>C Locations: - p.Arg50Ser (Ensembl:ENST00000358867) - c.150A>T (Ensembl:ENST00000358867) - c.150A>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1362933156 | 51 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.767) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000011.10:g.85631756C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631756C>G Locations: - p.Pro51Ala (Ensembl:ENST00000358867) - c.151C>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs753343420 | 51 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.439) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000011.10:g.85631757C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631757C>T Locations: - p.Pro51Leu (Ensembl:ENST00000358867) - c.152C>T (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs753343420 | 51 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000011.10:g.85631757C>G Codon: CCA/CGA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631757C>G Locations: - p.Pro51Arg (Ensembl:ENST00000358867) - c.152C>G (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs2082302020 | 52 | M>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000011.10:g.85631760T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631760T>G Locations: - p.Met52Arg (Ensembl:ENST00000358867) - c.155T>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs754525612 | 52 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000011.10:g.85631759A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631759A>G Locations: - p.Met52Val (Ensembl:ENST00000358867) - c.154A>G (Ensembl:ENST00000358867) Source type: large scale study | |||||||
COSV62670831 rs778231539 | 53 | V>F | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.195) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.85631762G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631762G>T Locations: - p.Val53Phe (Ensembl:ENST00000358867) - c.157G>T (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs778231539 | 53 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.82) Somatic: No Accession: NC_000011.10:g.85631762G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631762G>A Locations: - p.Val53Ile (Ensembl:ENST00000358867) - c.157G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs547778179 | 54 | I>T | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.354) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000011.10:g.85631766T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631766T>C Locations: - p.Ile54Thr (Ensembl:ENST00000358867) - c.161T>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1397905494 | 54 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.118) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000011.10:g.85631765A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631765A>G Locations: - p.Ile54Val (Ensembl:ENST00000358867) - c.160A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1313661278 | 55 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.558) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.85631768G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631768G>A Locations: - p.Glu55Lys (Ensembl:ENST00000358867) - c.163G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
COSV62671473 rs1313661278 | 55 | E>Q | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000011.10:g.85631768G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631768G>C Locations: - p.Glu55Gln (Ensembl:ENST00000358867) - c.163G>C (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs1246011858 | 56 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.903) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000011.10:g.85631771A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631771A>G Locations: - p.Ile56Val (Ensembl:ENST00000358867) - c.166A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
COSV100728968 | 57 | I>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.187) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000011.10:g.85631776A>G Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631776A>G Locations: - c.171A>G (NCI-TCGA:ENST00000358867) - p.I57M (NCI-TCGA:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1283610941 | 57 | I>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.927) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85631775T>G Codon: ATA/AGA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631775T>G Locations: - p.Ile57Arg (Ensembl:ENST00000358867) - c.170T>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
COSV62670769 rs1283610941 | 57 | I>T | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000011.10:g.85631775T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631775T>C Locations: - p.Ile57Thr (Ensembl:ENST00000358867) - c.170T>C (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs781414986 | 57 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000011.10:g.85631774A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631774A>G Locations: - p.Ile57Val (Ensembl:ENST00000358867) - c.169A>G (Ensembl:ENST00000358867) Source type: large scale study | |||||||
COSV62670694 | 58 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.85631777G>T Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631777G>T Locations: - c.172G>T (NCI-TCGA:ENST00000358867) - p.E58* (NCI-TCGA:ENST00000358867) Source type: large scale study Cross-references: | |||||||
COSV62670694 | 58 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.642) - SIFT: tolerated (0.2) Somatic: Yes Accession: NC_000011.10:g.85631777G>C Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631777G>C Locations: - c.172G>C (NCI-TCGA:ENST00000358867) - p.E58Q (NCI-TCGA:ENST00000358867) Source type: large scale study Cross-references: | |||||||
COSV62670544 rs2082303322 | 60 | N>I | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000011.10:g.85631784A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631784A>T Locations: - p.Asn60Ile (Ensembl:ENST00000358867) - c.179A>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
COSV100729058 COSV104415981 rs1217217218 | 60 | N>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000011.10:g.85631785T>G, NC_000011.10:g.85631785T>A Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631785T>G, NC_000011.10:g.85631785T>A Locations: - c.180T>G (NCI-TCGA:ENST00000358867) - p.N60K (NCI-TCGA:ENST00000358867) - p.Asn60Lys (Ensembl:ENST00000358867) - c.180T>A (Ensembl:ENST00000358867) Source type: large scale study | |||||||
COSV62670578 rs1484380626 | 61 | F>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.819) - SIFT: deleterious (0.01) - PolyPhen: possibly damaging (0.825) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.000004083 (gnomAD) Accession: NC_000011.10:g.85631787T>G Codon: TTT/TGT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631787T>G Locations: - p.F61C (NCI-TCGA:ENST00000358867) - p.Phe61Cys (Ensembl:ENST00000358867) - c.182T>G (Ensembl:ENST00000358867) Source type: large scale study | |||||||
COSV100729006 rs751104967 | 61 | F>V | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: tolerated (0.39) Somatic: Yes Accession: NC_000011.10:g.85631786T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631786T>G Locations: - p.Phe61Val (Ensembl:ENST00000358867) - c.181T>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082303649 | 62 | D>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.611) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.85631789G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631789G>C Locations: - p.Asp62His (Ensembl:ENST00000358867) - c.184G>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs769893074 | 62 | D>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.246) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.85631790A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631790A>T Locations: - p.Asp62Val (Ensembl:ENST00000358867) - c.185A>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082303649 | 62 | D>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.43) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85631789G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631789G>T Locations: - p.Asp62Tyr (Ensembl:ENST00000358867) - c.184G>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1256352112 | 63 | Y>C | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000011.10:g.85631793A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631793A>G Locations: - p.Tyr63Cys (Ensembl:ENST00000358867) - c.188A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1256352112 | 63 | Y>F | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000011.10:g.85631793A>T Codon: TAT/TTT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631793A>T Locations: - p.Tyr63Phe (Ensembl:ENST00000358867) - c.188A>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082303897 | 63 | Y>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000011.10:g.85631792T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631792T>C Locations: - p.Tyr63His (Ensembl:ENST00000358867) - c.187T>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs775918690 | 64 | L>F | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.85) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.85631795C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631795C>T Locations: - p.Leu64Phe (Ensembl:ENST00000358867) - c.190C>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
TCGA novel | 64 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.749) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.85631795C>A Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631795C>A Locations: - c.190C>A (NCI-TCGA:ENST00000358867) - p.L64I (NCI-TCGA:ENST00000358867) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1418153737 | 66 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000011.10:g.85631802A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631802A>G Locations: - p.Lys66Arg (Ensembl:ENST00000358867) - c.197A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs768901452 | 67 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000011.10:g.85631806A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631806A>T Locations: - p.Glu67Asp (Ensembl:ENST00000358867) - c.201A>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
COSV105269693 rs749345722 | 67 | E>Q | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.311) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000011.10:g.85631804G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631804G>C Locations: - p.Glu67Gln (Ensembl:ENST00000358867) - c.199G>C (Ensembl:ENST00000358867) Source type: large scale study | |||||||
COSV100728996 rs546617152 | 68 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.18) - PolyPhen: benign (0.018) - SIFT: tolerated (0.2) Somatic: Yes Accession: NC_000011.10:g.85634086G>A, NC_000011.10:g.85634086G>T Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634086G>A, NC_000011.10:g.85634086G>T Locations: - c.204G>A (NCI-TCGA:ENST00000358867) - p.M68I (NCI-TCGA:ENST00000358867) - p.Met68Ile (Ensembl:ENST00000358867) - c.204G>T (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs2082304511 | 68 | M>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.85631808T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631808T>A Locations: - p.Met68Lys (Ensembl:ENST00000358867) - c.203T>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1390323773 | 68 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000011.10:g.85631807A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85631807A>G Locations: - p.Met68Val (Ensembl:ENST00000358867) - c.202A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082354135 | 69 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000011.10:g.85634087A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634087A>G Locations: - p.Thr69Ala (Ensembl:ENST00000358867) - c.205A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
CA10586227 COSV100729018 RCV000239501 rs886037857 | 70 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) Mitochondrial complex 1 deficiency, nuclear type 29 (ClinVar) | Pathogenic (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.85634090C>T Codon: CAA/TAA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634090C>T Locations: - p.Q70* (NCI-TCGA:ENST00000358867) - p.Gln70Ter (Ensembl:ENST00000358867) - c.208C>T (Ensembl:ENST00000358867) Disease association: - Mitochondrial complex 1 deficiency, nuclear type 29 Source type: large scale study | |||||||
VAR_081464 | 70-230 | QN>del | MC1DN29; loss of function in complex I assembly (UniProt) | UniProt | |||
Consequence: inframe deletion Somatic: No Accession: Consequence type: inframe deletion Cytogenetic band: 11q14.1 Genomic location: Locations: - p.Gln70_Glu230del (UniProt:Q8IUX1) Disease association: - Mitochondrial complex I deficiency, nuclear type 29 (MC1DN29) Source type: uniprot Cross-references: | |||||||
rs1431953334 | 71 | N>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.408) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.85634095T>G Codon: TAT/GAT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634095T>G Locations: - p.Asn71Lys (Ensembl:ENST00000358867) - c.213T>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs142241166 | 71 | N>T | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.406) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000011.10:g.85634094A>C Codon: AAA/AAC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634094A>C Locations: - p.Asn71Thr (Ensembl:ENST00000358867) - c.212A>C (Ensembl:ENST00000358867) Source type: large scale study | |||||||
COSV62670741 rs756614879 | 72 | I>M | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.75) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000011.10:g.85634098A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634098A>G Locations: - p.Ile72Met (Ensembl:ENST00000358867) - c.216A>G (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs750984406 | 72 | I>T | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000011.10:g.85634097T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634097T>C Locations: - p.Ile72Thr (Ensembl:ENST00000358867) - c.215T>C (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs151194418 | 72 | I>V | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.227) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000011.10:g.85634096A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634096A>G Locations: - p.Ile72Val (Ensembl:ENST00000358867) - c.214A>G (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs2082354524 | 73 | Y>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.85634100A>C Codon: TAT/TCT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634100A>C Locations: - p.Tyr73Ser (Ensembl:ENST00000358867) - c.218A>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs140327341 | 76 | A>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000011.10:g.85634109C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634109C>G Locations: - p.Ala76Gly (Ensembl:ENST00000358867) - c.227C>G (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs1213390640 | 76 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.85634108G>C Codon: GCG/CCG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634108G>C Locations: - p.Ala76Pro (Ensembl:ENST00000358867) - c.226G>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1213390640 | 76 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000011.10:g.85634108G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634108G>A Locations: - p.Ala76Thr (Ensembl:ENST00000358867) - c.226G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
COSV62671246 rs140327341 | 76 | A>V | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.9) Somatic: Yes Accession: NC_000011.10:g.85634109C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634109C>T Locations: - p.Ala76Val (Ensembl:ENST00000358867) - c.227C>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082355033 | 77 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000011.10:g.85634112C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634112C>T Locations: - p.Thr77Ile (Ensembl:ENST00000358867) - c.230C>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs370408353 | 79 | G>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85634117G>C Codon: TGG/TCG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634117G>C Locations: - p.Gly79Arg (Ensembl:ENST00000358867) - c.235G>C (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs1671724408 | 80 | T>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.336) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.85634120A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634120A>T Locations: - p.Thr80Ser (Ensembl:ENST00000358867) - c.238A>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
RCV001940882 rs1261676471 | 81 | T>missing | Pathogenic (ClinVar) | ClinVar dbSNP | |||
Consequence: frameshift Somatic: No Accession: NC_000011.10:g.85634123del Consequence type: frameshift Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634123del Locations: - p.Thr81fs (ClinVar:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs772243262 | 81 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.652) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.85634124C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634124C>T Locations: - p.Thr81Ile (Ensembl:ENST00000358867) - c.242C>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs777525736 | 82 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.599) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.85634126G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634126G>A Locations: - p.Ala82Thr (Ensembl:ENST00000358867) - c.244G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1424519305 | 83 | G>S | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.85634129G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634129G>A Locations: - p.Gly83Ser (Ensembl:ENST00000358867) - c.247G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082355379 | 83 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.445) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.85634130G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634130G>T Locations: - p.Gly83Val (Ensembl:ENST00000358867) - c.248G>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
TCGA novel | 84 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000011.10:g.85634134C>A Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634134C>A Locations: - c.252C>A (NCI-TCGA:ENST00000358867) - p.F84L (NCI-TCGA:ENST00000358867) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs535399155 | 86 | G>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.85634138G>A Codon: TGG/TAG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634138G>A Locations: - p.Gly86Arg (Ensembl:ENST00000358867) - c.256G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs535685318 | 87 | I>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.422) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.85634142T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634142T>C Locations: - p.Ile87Thr (Ensembl:ENST00000358867) - c.260T>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1163124323 | 87 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000011.10:g.85634141A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634141A>G Locations: - p.Ile87Val (Ensembl:ENST00000358867) - c.259A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs759384365 COSV62670753 | 88 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed gnomAD NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000011.10:g.85634146C>G, NC_000011.10:g.85634146C>A Codon: TTC/TTG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634146C>G, NC_000011.10:g.85634146C>A Locations: - p.Phe88Leu (Ensembl:ENST00000358867) - c.264C>G (Ensembl:ENST00000358867) - c.264C>A (NCI-TCGA:ENST00000358867) - p.F88L (NCI-TCGA:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1192985571 | 88 | F>L | Likely benign (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.85634144T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634144T>C Locations: - p.Phe88Leu (Ensembl:ENST00000358867) - c.262T>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs769431258 | 89 | S>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.85634148C>G Codon: TCA/TGA Consequence type: stop gained Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634148C>G Locations: - p.Ser89Ter (Ensembl:ENST00000358867) - c.266C>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082355896 | 89 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.401) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85634147T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634147T>C Locations: - p.Ser89Pro (Ensembl:ENST00000358867) - c.265T>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082356008 | 90 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85634152C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634152C>G Locations: - p.Asn90Lys (Ensembl:ENST00000358867) - c.270C>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs775244818 | 91 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000011.10:g.85634155C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634155C>A Locations: - p.Phe91Leu (Ensembl:ENST00000358867) - c.273C>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs763680299 | 92 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.842) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85634157T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634157T>C Locations: - p.Leu92Pro (Ensembl:ENST00000358867) - c.275T>C (Ensembl:ENST00000358867) Source type: large scale study | |||||||
COSV100729065 | 94 | R>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.85634163G>C Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634163G>C Locations: - c.281G>C (NCI-TCGA:ENST00000358867) - p.R94T (NCI-TCGA:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs149900599 | 95 | R>C | 1000Genomes ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.74) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85634165C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634165C>T Locations: - p.Arg95Cys (Ensembl:ENST00000358867) - c.283C>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs767053552 | 95 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.85634166G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634166G>A Locations: - p.Arg95His (Ensembl:ENST00000358867) - c.284G>A (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs1287344046 | 96 | C>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.695) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000011.10:g.85634169G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634169G>A Locations: - p.Cys96Tyr (Ensembl:ENST00000358867) - c.287G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082356561 | 98 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.898) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.85634175A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634175A>G Locations: - p.Lys98Arg (Ensembl:ENST00000358867) - c.293A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082356644 | 100 | K>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.873) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85634181A>T Codon: AAA/ATA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634181A>T Locations: - p.Lys100Ile (Ensembl:ENST00000358867) - c.299A>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
COSV105269691 rs754254962 | 101 | H>R | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.422) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000011.10:g.85634184A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634184A>G Locations: - p.His101Arg (Ensembl:ENST00000358867) - c.302A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
COSV100729070 rs2082356815 | 102 | D>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: tolerated (0.16) - PolyPhen: benign (0.096) - SIFT: tolerated (0.2) Somatic: Yes Accession: NC_000011.10:g.85634186G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634186G>C Locations: - p.D102H (NCI-TCGA:ENST00000358867) - p.Asp102His (Ensembl:ENST00000358867) - c.304G>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2153308263 | 103 | A>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000011.10:g.85634190C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634190C>G Locations: - p.Ala103Gly (Ensembl:ENST00000358867) - c.308C>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082356915 | 103 | A>T | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000011.10:g.85634189G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634189G>A Locations: - p.Ala103Thr (Ensembl:ENST00000358867) - c.307G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
RCV001335007 RCV001780257 RCV001865819 rs752316853 | 107 | Y>missing | Mitochondrial complex I deficiency, nuclear type 1 (ClinVar) Mitochondrial complex 1 deficiency, nuclear type 29 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000011.10:g.85634200AT[1] Consequence type: frameshift Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634200AT[1] Locations: - p.Tyr107fs (ClinVar:ENST00000358867) Disease association: - Mitochondrial complex 1 deficiency, nuclear type 29 - Mitochondrial complex I deficiency, nuclear type 1 Source type: large scale study Cross-references: | |||||||
rs765534400 | 107 | Y>* | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.85634203T>A Codon: TAT/TAA Consequence type: stop gained Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634203T>A Locations: - p.Tyr107Ter (Ensembl:ENST00000358867) - c.321T>A (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs147592140 | 107 | Y>C | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.185) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.85634202A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634202A>G Locations: - p.Tyr107Cys (Ensembl:ENST00000358867) - c.320A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082357356 | 108 | A>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.85634205C>A Codon: GCA/GAA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634205C>A Locations: - p.Ala108Glu (Ensembl:ENST00000358867) - c.323C>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082357288 | 108 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.898) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000011.10:g.85634204G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634204G>A Locations: - p.Ala108Thr (Ensembl:ENST00000358867) - c.322G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs752986522 | 110 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.85634212G>T Codon: TTG/TTT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634212G>T Locations: - p.Leu110Phe (Ensembl:ENST00000358867) - c.330G>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2006646497 | 111 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.85634213G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634213G>A Locations: - p.Ala111Thr (Ensembl:ENST00000358867) - c.331G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs141929525 | 111 | A>V | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.85634214C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634214C>T Locations: - p.Ala111Val (Ensembl:ENST00000358867) - c.332C>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
RCV002076403 rs539263895 | 112 | T>I | Benign (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.274) - SIFT: tolerated (0.12) Somatic: No Population frequencies: - MAF: 0.0006 (ClinVar) Accession: NC_000011.10:g.85634217C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634217C>T Locations: - p.Thr112Ile (Ensembl:ENST00000358867) - c.335C>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082357863 | 113 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.909) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.85634219C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634219C>T Locations: - p.Leu113Phe (Ensembl:ENST00000358867) - c.337C>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082357919 | 114 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85634222C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634222C>G Locations: - p.Pro114Ala (Ensembl:ENST00000358867) - c.340C>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082357981 | 114 | P>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.85634223C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634223C>A Locations: - p.Pro114Gln (Ensembl:ENST00000358867) - c.341C>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs746862645 | 118 | T>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85634234A>C Codon: ACT/CCT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634234A>C Locations: - p.Thr118Pro (Ensembl:ENST00000358867) - c.352A>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082358081 | 119 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.85634237G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634237G>A Locations: - p.Val119Ile (Ensembl:ENST00000358867) - c.355G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1426230359 | 121 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000011.10:g.85634243A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634243A>G Locations: - p.Thr121Ala (Ensembl:ENST00000358867) - c.361A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1165237226 | 122 | D>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious (0.01) - PolyPhen: benign (0.024) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000003989 (gnomAD) Accession: NC_000011.10:g.85634248C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634248C>G Locations: - p.D122E (NCI-TCGA:ENST00000358867) - p.Asp122Glu (Ensembl:ENST00000358867) - c.366C>G (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs2082358251 | 122 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.85634246G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634246G>A Locations: - p.Asp122Asn (Ensembl:ENST00000358867) - c.364G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs781172446 | 123 | K>E | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.436) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.85634249A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634249A>G Locations: - p.Lys123Glu (Ensembl:ENST00000358867) - c.367A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082358470 | 124 | L>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85634253T>A Codon: CTT/CAT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634253T>A Locations: - p.Leu124His (Ensembl:ENST00000358867) - c.371T>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1417787043 | 126 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.277) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.85634258G>C Codon: GTA/CTA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634258G>C Locations: - p.Val126Leu (Ensembl:ENST00000358867) - c.376G>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
RCV001973605 rs745630370 | 127 | I>T | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000011.10:g.85634262T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634262T>C Locations: - p.Ile127Thr (Ensembl:ENST00000358867) - c.380T>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082358911 | 129 | A>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.513) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.85634268C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634268C>A Locations: - p.Ala129Asp (Ensembl:ENST00000358867) - c.386C>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
TCGA novel | 129 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.305) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000011.10:g.85634268C>T Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634268C>T Locations: - c.386C>T (NCI-TCGA:ENST00000358867) - p.A129V (NCI-TCGA:ENST00000358867) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs557796872 | 130 | L>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85634271T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634271T>C Locations: - p.Leu130Ser (Ensembl:ENST00000358867) - c.389T>C (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs2082359013 | 131 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000011.10:g.85634274A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634274A>G Locations: - p.Tyr131Cys (Ensembl:ENST00000358867) - c.392A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082359064 | 132 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.85634276T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634276T>C Locations: - p.Ser132Pro (Ensembl:ENST00000358867) - c.394T>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs777238614 | 133 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.85635667A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635667A>G Locations: - p.Asp133Gly (Ensembl:ENST00000358867) - c.398A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
CA6212478 RCV000239580 RCV002284385 rs573006534 | 133 | D>N | Mitochondrial complex 1 deficiency, nuclear type 29 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000011.10:g.85634279G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85634279G>A Locations: - p.Asp133Asn (Ensembl:ENST00000358867) - c.397G>A (Ensembl:ENST00000358867) Disease association: - Mitochondrial complex 1 deficiency, nuclear type 29 Source type: large scale study | |||||||
CA10581565 RCV000239553 RCV000240613 rs886037835 | 134 | N>missing | Mitochondrial disease (ClinVar) Mitochondrial complex 1 deficiency, nuclear type 29 (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000011.10:g.85635670del Consequence type: frameshift Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635670del Locations: - p.Asn134fs (ClinVar:ENST00000358867) Disease association: - Mitochondrial complex 1 deficiency, nuclear type 29 - Mitochondrial disease Source type: large scale study Cross-references: | |||||||
rs927504375 | 135 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85635673T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635673T>C Locations: - p.Ile135Thr (Ensembl:ENST00000358867) - c.404T>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs760127259 | 135 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.681) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.85635672A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635672A>G Locations: - p.Ile135Val (Ensembl:ENST00000358867) - c.403A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1565793857 | 136 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85635675A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635675A>T Locations: - p.Ser136Cys (Ensembl:ENST00000358867) - c.406A>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs765464252 | 138 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.651) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000011.10:g.85635683A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635683A>T Locations: - p.Glu138Asp (Ensembl:ENST00000358867) - c.414A>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs918262592 | 138 | E>K | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85635681G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635681G>A Locations: - p.Glu138Lys (Ensembl:ENST00000358867) - c.412G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1180285203 | 139 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.198) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000011.10:g.85635684A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635684A>G Locations: - p.Asn139Asp (Ensembl:ENST00000358867) - c.415A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1380778004 | 139 | N>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.274) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.85635685A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635685A>T Locations: - p.Asn139Ile (Ensembl:ENST00000358867) - c.416A>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1380778004 | 139 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000011.10:g.85635685A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635685A>G Locations: - p.Asn139Ser (Ensembl:ENST00000358867) - c.416A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
RCV001824194 RCV002542754 rs747181703 | 141 | V>missing | Mitochondrial complex 1 deficiency, nuclear type 29 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000011.10:g.85635688GT[1] Consequence type: frameshift Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635688GT[1] Locations: - p.Val141fs (ClinVar:ENST00000358867) Disease association: - Mitochondrial complex 1 deficiency, nuclear type 29 Source type: large scale study | |||||||
rs775909459 | 141 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.192) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000011.10:g.85635690G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635690G>A Locations: - p.Val141Ile (Ensembl:ENST00000358867) - c.421G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs201010232 | 146 | L>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.85635705C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635705C>A Locations: - p.Leu146Met (Ensembl:ENST00000358867) - c.436C>A (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs375039927 | 147 | I>T | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.612) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.85635709T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635709T>C Locations: - p.Ile147Thr (Ensembl:ENST00000358867) - c.440T>C (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs767611024 | 150 | V>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.871) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.85635717G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635717G>T Locations: - p.Val150Phe (Ensembl:ENST00000358867) - c.448G>T (Ensembl:ENST00000358867) Source type: large scale study | |||||||
TCGA novel | 151 | C>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.85635721G>T Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635721G>T Locations: - c.452G>T (NCI-TCGA:ENST00000358867) - p.C151F (NCI-TCGA:ENST00000358867) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1268872341 | 151 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85635721G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635721G>A Locations: - p.Cys151Tyr (Ensembl:ENST00000358867) - c.452G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1449372843 | 152 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.85635724G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635724G>A Locations: - p.Gly152Asp (Ensembl:ENST00000358867) - c.455G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1449372843 | 152 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85635724G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635724G>T Locations: - p.Gly152Val (Ensembl:ENST00000358867) - c.455G>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs750292433 | 153 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000011.10:g.85635726G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635726G>A Locations: - p.Val153Ile (Ensembl:ENST00000358867) - c.457G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1277156035 | 155 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85635733A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635733A>G Locations: - p.Tyr155Cys (Ensembl:ENST00000358867) - c.464A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs756088017 | 155 | Y>H | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.483) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000011.10:g.85635732T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635732T>C Locations: - p.Tyr155His (Ensembl:ENST00000358867) - c.463T>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs756088017 | 155 | Y>N | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85635732T>A Codon: TAT/AAT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635732T>A Locations: - p.Tyr155Asn (Ensembl:ENST00000358867) - c.463T>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs145769491 | 156 | P>S | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85635735C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635735C>T Locations: - p.Pro156Ser (Ensembl:ENST00000358867) - c.466C>T (Ensembl:ENST00000358867) Source type: large scale study | |||||||
COSV107444078 RCV001927322 RCV002554191 rs145769491 | 156 | P>T | Inborn genetic diseases (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.00004 (ClinVar) Accession: NC_000011.10:g.85635735C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635735C>A Locations: - p.Pro156Thr (Ensembl:ENST00000358867) - c.466C>A (Ensembl:ENST00000358867) Disease association: - Inborn genetic diseases Source type: large scale study | |||||||
rs753639878 | 158 | S>C | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85635742C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635742C>G Locations: - p.Ser158Cys (Ensembl:ENST00000358867) - c.473C>G (Ensembl:ENST00000358867) Source type: large scale study | |||||||
COSV62671592 rs753639878 | 158 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.472) - SIFT: deleterious (0.03) - PolyPhen: possibly damaging (0.483) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000004136 (gnomAD) Accession: NC_000011.10:g.85635742C>A Codon: TCT/TAT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635742C>A Locations: - p.S158Y (NCI-TCGA:ENST00000358867) - p.Ser158Tyr (Ensembl:ENST00000358867) - c.473C>A (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs754783644 | 159 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.85635746G>C Codon: TTG/TTC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635746G>C Locations: - p.Leu159Phe (Ensembl:ENST00000358867) - c.477G>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
RCV002021612 rs768932743 | 163 | K>missing | Variant of uncertain significance (ClinVar) | ClinVar dbSNP | |||
Consequence: inframe deletion Somatic: No Accession: NC_000011.10:g.85635758_85635760del Consequence type: inframe deletion Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635758_85635760del Locations: - p.Lys163del (ClinVar:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1199572088 | 163 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.85635756A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635756A>G Locations: - p.Lys163Glu (Ensembl:ENST00000358867) - c.487A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2153309449 | 165 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85635763G>C Codon: GGA/GCA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635763G>C Locations: - p.Gly165Ala (Ensembl:ENST00000358867) - c.494G>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2153309449 | 165 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85635763G>T Codon: GGA/GTA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635763G>T Locations: - p.Gly165Val (Ensembl:ENST00000358867) - c.494G>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
RCV001940728 RCV004044031 rs370149497 | 166 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Inborn genetic diseases (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: deleterious (0.03) - PolyPhen: benign (0.065) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0.00003995 (gnomAD) - MAF: 0.00003 (ClinVar) Accession: NC_000011.10:g.85635765C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635765C>T Locations: - p.R166C (NCI-TCGA:ENST00000358867) - p.Arg166Cys (Ensembl:ENST00000358867) - c.496C>T (Ensembl:ENST00000358867) Disease association: - Inborn genetic diseases Source type: large scale study | |||||||
rs112358510 | 166 | R>H | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000011.10:g.85635766G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635766G>A Locations: - p.Arg166His (Ensembl:ENST00000358867) - c.497G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs112358510 | 166 | R>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.589) - SIFT: tolerated (0.05) - PolyPhen: benign (0.445) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.000004511 (gnomAD) Accession: NC_000011.10:g.85635766G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635766G>T Locations: - p.R166L (NCI-TCGA:ENST00000358867) - p.Arg166Leu (Ensembl:ENST00000358867) - c.497G>T (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs370149497 | 166 | R>S | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.85635765C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635765C>A Locations: - p.Arg166Ser (Ensembl:ENST00000358867) - c.496C>A (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs2082387491 | 167 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.85635768C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635768C>G Locations: - p.Leu167Val (Ensembl:ENST00000358867) - c.499C>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs372220133 | 168 | A>E | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85635772C>A Codon: GCA/GAA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635772C>A Locations: - p.Ala168Glu (Ensembl:ENST00000358867) - c.503C>A (Ensembl:ENST00000358867) Source type: large scale study | |||||||
COSV62671645 rs2082387556 | 168 | A>T | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.85635771G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635771G>A Locations: - p.Ala168Thr (Ensembl:ENST00000358867) - c.502G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1400714829 | 170 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85636046G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636046G>T Locations: - p.Lys170Asn (Ensembl:ENST00000358867) - c.510G>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs746574898 | 170 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000011.10:g.85635778A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635778A>G Locations: - p.Lys170Arg (Ensembl:ENST00000358867) - c.509A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082387956 | 170 | K>TT | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.85635777_85635778insCAACTAAACCATAGAAAGAATATT Codon: AAG/ACAACTAAACCATAGAAAGAATATTAG Consequence type: stop gained Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85635777_85635778insCAACTAAACCATAGAAAGAATATT Locations: - p.Lys170delinsThrThrLysProTer (Ensembl:ENST00000358867) - c.508_509insCAACTAAACCATAGAAAGAATATT (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082397670 | 173 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.915) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85636053A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636053A>G Locations: - p.Thr173Ala (Ensembl:ENST00000358867) - c.517A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
COSV62670998 rs773475165 | 174 | V>I | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000011.10:g.85636056G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636056G>A Locations: - p.Val174Ile (Ensembl:ENST00000358867) - c.520G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs760763396 | 175 | P>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85636060C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636060C>A Locations: - p.Pro175Gln (Ensembl:ENST00000358867) - c.524C>A (Ensembl:ENST00000358867) Source type: large scale study | |||||||
COSV62670585 | 175 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000011.10:g.85636059C>T Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636059C>T Locations: - c.523C>T (NCI-TCGA:ENST00000358867) - p.P175S (NCI-TCGA:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1356867552 | 176 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.621) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.85636063T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636063T>C Locations: - p.Leu176Pro (Ensembl:ENST00000358867) - c.527T>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082398238 | 176 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.352) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.85636062C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636062C>G Locations: - p.Leu176Val (Ensembl:ENST00000358867) - c.526C>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs533368293 | 177 | P>L | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85636066C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636066C>T Locations: - p.Pro177Leu (Ensembl:ENST00000358867) - c.530C>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1283854569 | 178 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85636068C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636068C>A Locations: - p.Pro178Thr (Ensembl:ENST00000358867) - c.532C>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082398483 | 179 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85636071A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636071A>G Locations: - p.Lys179Glu (Ensembl:ENST00000358867) - c.535A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1591457187 | 180 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.917) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85636075G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636075G>A Locations: - p.Gly180Glu (Ensembl:ENST00000358867) - c.539G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1591457190 | 181 | R>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000011.10:g.85636078G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636078G>A Locations: - p.Arg181Lys (Ensembl:ENST00000358867) - c.542G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082398753 | 182 | V>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85636081T>A Codon: GTT/GAT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636081T>A Locations: - p.Val182Asp (Ensembl:ENST00000358867) - c.545T>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1565794552 | 185 | H>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.888) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85636090A>C Codon: CAT/CCT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636090A>C Locations: - p.His185Pro (Ensembl:ENST00000358867) - c.554A>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1254983131 | 186 | W>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85636092T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636092T>C Locations: - p.Trp186Arg (Ensembl:ENST00000358867) - c.556T>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1441616897 | 187 | M>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000011.10:g.85636097G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636097G>A Locations: - p.Met187Ile (Ensembl:ENST00000358867) - c.561G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1185157560 | 187 | M>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000011.10:g.85636095A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636095A>G Locations: - p.Met187Val (Ensembl:ENST00000358867) - c.559A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs759406244 | 188 | T>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.85636099C>A Codon: ACG/AAG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636099C>A Locations: - p.Thr188Lys (Ensembl:ENST00000358867) - c.563C>A (Ensembl:ENST00000358867) Source type: large scale study | |||||||
COSV62671151 rs759406244 | 188 | T>M | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.24) Somatic: Yes Accession: NC_000011.10:g.85636099C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636099C>T Locations: - p.Thr188Met (Ensembl:ENST00000358867) - c.563C>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1369382038 | 189 | L>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.85636102T>A Codon: CTT/CAT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636102T>A Locations: - p.Leu189His (Ensembl:ENST00000358867) - c.566T>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1369382038 | 189 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.85636102T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636102T>C Locations: - p.Leu189Pro (Ensembl:ENST00000358867) - c.566T>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082399577 | 190 | C>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.85636105G>T Codon: TGT/TTT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636105G>T Locations: - p.Cys190Phe (Ensembl:ENST00000358867) - c.569G>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082399691 | 191 | Q>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000011.10:g.85636109A>C Codon: CAA/CAC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636109A>C Locations: - p.Gln191His (Ensembl:ENST00000358867) - c.573A>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs758307965 | 193 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.85636113C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636113C>T Locations: - p.Gln193Ter (Ensembl:ENST00000358867) - c.577C>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082399980 | 193 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.488) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.85636115A>C Codon: CAA/CAC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636115A>C Locations: - p.Gln193His (Ensembl:ENST00000358867) - c.579A>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs763814921 | 193 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000011.10:g.85636114A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636114A>G Locations: - p.Gln193Arg (Ensembl:ENST00000358867) - c.578A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082400062 | 194 | M>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000011.10:g.85636116A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636116A>G Locations: - p.Met194Val (Ensembl:ENST00000358867) - c.580A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082400132 | 196 | L>* | Pathogenic (Ensembl) | TOPMed | |||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.85636123T>G Codon: TTA/TGA Consequence type: stop gained Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636123T>G Locations: - p.Leu196Ter (Ensembl:ENST00000358867) - c.587T>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
COSV62671095 RCV001335913 RCV001729850 RCV002546751 rs181963507 | 197 | M>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Mitochondrial complex I deficiency, nuclear type 1 (ClinVar) Inborn genetic diseases (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.03) - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.02) Somatic: Yes Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000011.10:g.85636125A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636125A>G Locations: - p.M197V (NCI-TCGA:ENST00000358867) - p.Met197Val (Ensembl:ENST00000358867) - c.589A>G (Ensembl:ENST00000358867) Disease association: - Inborn genetic diseases - Mitochondrial complex I deficiency, nuclear type 1 Source type: large scale study | |||||||
VAR_031188 COSV62671130 RCV001522013 rs17850847 | 198 | A>V | Benign (Ensembl, ClinVar) | UniProt cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00859 (ClinVar) Accession: NC_000011.10:g.85636129C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636129C>T Locations: - p.Ala198Val (UniProt:Q8IUX1) Source type: mixed | |||||||
rs749742466 | 199 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.532) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85636132T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636132T>C Locations: - p.Ile199Thr (Ensembl:ENST00000358867) - c.596T>C (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs2082400555 | 201 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.112) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.85636137C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636137C>G Locations: - p.Leu201Val (Ensembl:ENST00000358867) - c.601C>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1228434592 | 202 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000011.10:g.85636141T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636141T>C Locations: - p.Val202Ala (Ensembl:ENST00000358867) - c.605T>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082400682 | 203 | F>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.585) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.85636144T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636144T>C Locations: - p.Phe203Ser (Ensembl:ENST00000358867) - c.608T>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1282010026 | 204 | Q>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.499) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85636146C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636146C>G Locations: - p.Gln204Glu (Ensembl:ENST00000358867) - c.610C>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs980245038 | 204 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.108) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000011.10:g.85636148G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636148G>T Locations: - p.Gln204His (Ensembl:ENST00000358867) - c.612G>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs779439481 | 204 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.765) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85636147A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636147A>G Locations: - p.Gln204Arg (Ensembl:ENST00000358867) - c.611A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1034625521 | 205 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000011.10:g.85636151T>G Codon: ATT/ATG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636151T>G Locations: - p.Ile205Met (Ensembl:ENST00000358867) - c.615T>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs748493432 | 205 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000011.10:g.85636149A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636149A>G Locations: - p.Ile205Val (Ensembl:ENST00000358867) - c.613A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs778025137 | 206 | M>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.85636153T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636153T>A Locations: - p.Met206Lys (Ensembl:ENST00000358867) - c.617T>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs772452178 | 206 | M>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000011.10:g.85636152A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636152A>C Locations: - p.Met206Leu (Ensembl:ENST00000358867) - c.616A>C (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs778025137 | 206 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000011.10:g.85636153T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636153T>C Locations: - p.Met206Thr (Ensembl:ENST00000358867) - c.617T>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs772452178 | 206 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.85636152A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636152A>G Locations: - p.Met206Val (Ensembl:ENST00000358867) - c.616A>G (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs148346070 | 207 | F>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.683) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.85636156T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636156T>C Locations: - p.Phe207Ser (Ensembl:ENST00000358867) - c.620T>C (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs1387038305 | 208 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85636159G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636159G>A Locations: - p.Gly208Glu (Ensembl:ENST00000358867) - c.623G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
COSV62670820 rs1201796267 | 208 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.85636158G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636158G>A Locations: - p.G208R (NCI-TCGA:ENST00000358867) - p.Gly208Arg (Ensembl:ENST00000358867) - c.622G>A (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs549227957 | 209 | I>T | Likely benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000011.10:g.85636162T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636162T>C Locations: - p.Ile209Thr (Ensembl:ENST00000358867) - c.626T>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs909501841 | 210 | L>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000011.10:g.85636164T>A Codon: TTA/ATA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636164T>A Locations: - p.Leu210Ile (Ensembl:ENST00000358867) - c.628T>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
TCGA novel | 210 | L>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.239) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000011.10:g.85636165T>C Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636165T>C Locations: - c.629T>C (NCI-TCGA:ENST00000358867) - p.L210S (NCI-TCGA:ENST00000358867) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2082401453 | 212 | G>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85636170G>T Codon: GGT/TGT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636170G>T Locations: - p.Gly212Cys (Ensembl:ENST00000358867) - c.634G>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
VAR_081465 CA6212626 COSV99074303 RCV000239528 RCV000240617 RCV001269887 RCV004017529 rs141542003 | 212 | G>V | MC1DN29; decreased function in complex I assembly (UniProt) Mitochondrial complex I deficiency (ClinVar) Mitochondrial disease (ClinVar) Mitochondrial complex 1 deficiency, nuclear type 29 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00131 (ClinVar) Accession: NC_000011.10:g.85636171G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636171G>T Locations: - p.Gly212Val (UniProt:Q8IUX1) Disease association: - Mitochondrial complex 1 deficiency, nuclear type 29 - Mitochondrial complex I deficiency - Mitochondrial disease - Mitochondrial complex I deficiency, nuclear type 29 (MC1DN29) Source type: mixed | |||||||
rs2082401637 | 213 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.85636173C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636173C>G Locations: - p.Leu213Val (Ensembl:ENST00000358867) - c.637C>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs184777231 | 214 | Y>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.659) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.85636177A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636177A>G Locations: - p.Tyr214Cys (Ensembl:ENST00000358867) - c.641A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2153309893 | 214 | Y>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000011.10:g.85636176T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636176T>C Locations: - p.Tyr214His (Ensembl:ENST00000358867) - c.640T>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs2082401939 | 215 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.554) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.85636180A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636180A>G Locations: - p.His215Arg (Ensembl:ENST00000358867) - c.644A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs765233284 | 216 | Y>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.85636184T>G, NC_000011.10:g.85636184T>A Codon: TAT/TAG Consequence type: stop gained Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636184T>G, NC_000011.10:g.85636184T>A Locations: - p.Tyr216Ter (Ensembl:ENST00000358867) - c.648T>G (Ensembl:ENST00000358867) - c.648T>A (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs762786611 | 218 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.85636188G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636188G>A Locations: - p.Val218Ile (Ensembl:ENST00000358867) - c.652G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1402587505 | 222 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.354) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000011.10:g.85636201C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636201C>T Locations: - p.Thr222Ile (Ensembl:ENST00000358867) - c.665C>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs764011084 | 223 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.85636204T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636204T>C Locations: - p.Leu223Pro (Ensembl:ENST00000358867) - c.668T>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs751153059 | 224 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000011.10:g.85636206G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636206G>A Locations: - p.Glu224Lys (Ensembl:ENST00000358867) - c.670G>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs751153059 | 224 | E>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000011.10:g.85636206G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636206G>C Locations: - p.Glu224Gln (Ensembl:ENST00000358867) - c.670G>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs949531184 | 225 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.85636209A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636209A>G Locations: - p.Lys225Glu (Ensembl:ENST00000358867) - c.673A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1208826391 | 226 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.85636213C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636213C>T Locations: - p.Thr226Ile (Ensembl:ENST00000358867) - c.677C>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1565794812 | 227 | I>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000011.10:g.85636215A>T Codon: ATA/TTA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636215A>T Locations: - p.Ile227Leu (Ensembl:ENST00000358867) - c.679A>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1391868517 | 227 | I>T | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.094) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.85636216T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636216T>C Locations: - p.Ile227Thr (Ensembl:ENST00000358867) - c.680T>C (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1565794812 | 227 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.85636215A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636215A>G Locations: - p.Ile227Val (Ensembl:ENST00000358867) - c.679A>G (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1300568573 | 228 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.484) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000011.10:g.85636218C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636218C>T Locations: - p.His228Tyr (Ensembl:ENST00000358867) - c.682C>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
COSV107444092 RCV001552931 rs146322392 | 230 | E>K | Likely benign (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.0014 (ClinVar) Accession: NC_000011.10:g.85636224G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636224G>A Locations: - p.Glu230Lys (Ensembl:ENST00000358867) - c.688G>A (Ensembl:ENST00000358867) Source type: large scale study | |||||||
rs1234824356 | 230 | E>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.287) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.85636225A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636225A>T Locations: - p.Glu230Val (Ensembl:ENST00000358867) - c.689A>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1316935804 | 231 | *>K | gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000011.10:g.85636227T>A Codon: TAA/AAA Consequence type: stop lost Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636227T>A Locations: - p.Ter231LysextTer4 (Ensembl:ENST00000358867) - c.691T>A (Ensembl:ENST00000358867) Source type: large scale study Cross-references: | |||||||
rs1196434249 | 231 | *>L | gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000011.10:g.85636228A>T Codon: TAA/TTA Consequence type: stop lost Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.85636228A>T Locations: - p.Ter231LeuextTer4 (Ensembl:ENST00000358867) - c.692A>T (Ensembl:ENST00000358867) Source type: large scale study Cross-references: |