B7Z4M1 · B7Z4M1_HUMAN
- ProteinReticulon
- GeneRTN3
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids123 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs2134581388 | 2 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.63681640G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681640G>T Locations: - p.Ala2Ser (Ensembl:ENST00000536011) - c.4G>T (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs751305965 | 2 | A>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.63681641C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681641C>T Locations: - p.Ala2Val (Ensembl:ENST00000536011) - c.5C>T (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs1445894615 | 4 | P>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000011.10:g.63681647C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681647C>A Locations: - p.Pro4Gln (Ensembl:ENST00000536011) - c.11C>A (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs757073343 | 4 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.22) Somatic: No Accession: NC_000011.10:g.63681646C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681646C>T Locations: - p.Pro4Ser (Ensembl:ENST00000536011) - c.10C>T (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs757073343 | 4 | P>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000011.10:g.63681646C>A Codon: CCG/ACG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681646C>A Locations: - p.Pro4Thr (Ensembl:ENST00000536011) - c.10C>A (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
COSV105217544 rs11551941 | 5 | S>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.13) Somatic: Yes Accession: NC_000011.10:g.63681650C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681650C>T Locations: - p.Ser5Leu (Ensembl:ENST00000536011) - c.14C>T (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs750626740 | 5 | S>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000011.10:g.63681649T>C Codon: TCG/CCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681649T>C Locations: - p.Ser5Pro (Ensembl:ENST00000536011) - c.13T>C (Ensembl:ENST00000536011) Source type: large scale study | |||||||
VAR_031164 COSV58031535 rs11551944 | 6 | A>E | UniProt cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.63681653C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681653C>A Locations: - p.Ala6Glu (UniProt:O95197) - p.Ala6Glu (Ensembl:ENST00000536011) - c.17C>A (Ensembl:ENST00000536011) Source type: mixed | |||||||
rs1376897801 | 6 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000011.10:g.63681652G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681652G>A Locations: - p.Ala6Thr (Ensembl:ENST00000536011) - c.16G>A (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs749426471 | 7 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000011.10:g.63681655G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681655G>T Locations: - p.Ala7Ser (Ensembl:ENST00000536011) - c.19G>T (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs749426471 | 7 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000011.10:g.63681655G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681655G>A Locations: - p.Ala7Thr (Ensembl:ENST00000536011) - c.19G>A (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs1388173410 | 8 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000011.10:g.63681658A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681658A>G Locations: - p.Thr8Ala (Ensembl:ENST00000536011) - c.22A>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs987186723 | 8 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000011.10:g.63681659C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681659C>T Locations: - p.Thr8Ile (Ensembl:ENST00000536011) - c.23C>T (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1590758945 | 9 | Q>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000011.10:g.63681661C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681661C>G Locations: - p.Gln9Glu (Ensembl:ENST00000536011) - c.25C>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1175315963 | 9 | Q>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.63681662A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681662A>T Locations: - p.Gln9Leu (Ensembl:ENST00000536011) - c.26A>T (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
COSV58030825 rs769268946 | 10 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Population frequencies: - MAF: 0.00002418 (gnomAD) Accession: NC_000011.10:g.63681665C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681665C>T Locations: - p.S10F (NCI-TCGA:ENST00000536011) - p.Ser10Phe (Ensembl:ENST00000536011) - c.29C>T (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs748486472 | 11 | H>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.63681667C>G Codon: CAT/GAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681667C>G Locations: - p.His11Asp (Ensembl:ENST00000536011) - c.31C>G (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs748486472 | 11 | H>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000011.10:g.63681667C>A Codon: CAT/AAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681667C>A Locations: - p.His11Asn (Ensembl:ENST00000536011) - c.31C>A (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs1323101066 | 12 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000011.10:g.63681671C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681671C>T Locations: - p.Ser12Phe (Ensembl:ENST00000536011) - c.35C>T (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1451545168 | 13 | I>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000011.10:g.63681674T>G Codon: ATC/AGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681674T>G Locations: - p.Ile13Ser (Ensembl:ENST00000536011) - c.38T>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs759103345 | 15 | S>* | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.63681680C>A Codon: TCG/TAG Consequence type: stop gained Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681680C>A Locations: - p.Ser15Ter (Ensembl:ENST00000536011) - c.44C>A (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs759103345 | 15 | S>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.63681680C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681680C>T Locations: - p.Ser15Leu (Ensembl:ENST00000536011) - c.44C>T (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs1342155686 | 16 | S>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.63681683C>A Codon: TCG/TAG Consequence type: stop gained Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681683C>A Locations: - p.Ser16Ter (Ensembl:ENST00000536011) - c.47C>A (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs769523522 | 17 | S>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.44) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.63681686C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681686C>G Locations: - p.Ser17Cys (Ensembl:ENST00000536011) - c.50C>G (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs769523522 | 17 | S>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.343) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.63681686C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681686C>A Locations: - p.Ser17Tyr (Ensembl:ENST00000536011) - c.50C>A (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs1357812718 | 18 | F>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000011.10:g.63681689T>G Codon: TTC/TGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681689T>G Locations: - p.Phe18Cys (Ensembl:ENST00000536011) - c.53T>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1207733831 | 18 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000011.10:g.63681690C>A, NC_000011.10:g.63681690C>G Codon: TTC/TTA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681690C>A, NC_000011.10:g.63681690C>G Locations: - p.Phe18Leu (Ensembl:ENST00000536011) - c.54C>A (Ensembl:ENST00000536011) - c.54C>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1357812718 | 18 | F>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000011.10:g.63681689T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681689T>C Locations: - p.Phe18Ser (Ensembl:ENST00000536011) - c.53T>C (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1941050346 | 18 | F>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000011.10:g.63681688T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681688T>G Locations: - p.Phe18Val (Ensembl:ENST00000536011) - c.52T>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs763977377 | 19 | G>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000011.10:g.63681692G>C Codon: GGA/GCA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681692G>C Locations: - p.Gly19Ala (Ensembl:ENST00000536011) - c.56G>C (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs763977377 | 19 | G>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.63681692G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681692G>A Locations: - p.Gly19Glu (Ensembl:ENST00000536011) - c.56G>A (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs541499189 | 19 | G>R | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000011.10:g.63681691G>A, NC_000011.10:g.63681691G>C Codon: GGA/AGA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681691G>A, NC_000011.10:g.63681691G>C Locations: - p.Gly19Arg (Ensembl:ENST00000536011) - c.55G>A (Ensembl:ENST00000536011) - c.55G>C (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs1941052186 | 20 | A>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000011.10:g.63681695C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681695C>G Locations: - p.Ala20Gly (Ensembl:ENST00000536011) - c.59C>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1245953000 | 20 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000011.10:g.63681694G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681694G>C Locations: - p.Ala20Pro (Ensembl:ENST00000536011) - c.58G>C (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs931472161 | 21 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.63681697G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681697G>T Locations: - p.Glu21Ter (Ensembl:ENST00000536011) - c.61G>T (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs931472161 | 21 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000011.10:g.63681697G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681697G>A Locations: - p.Glu21Lys (Ensembl:ENST00000536011) - c.61G>A (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs931472161 | 21 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000011.10:g.63681697G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681697G>C Locations: - p.Glu21Gln (Ensembl:ENST00000536011) - c.61G>C (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs753815970 | 22 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.63681701C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681701C>T Locations: - p.Pro22Leu (Ensembl:ENST00000536011) - c.65C>T (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs753815970 | 22 | P>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.63681701C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681701C>A Locations: - p.Pro22Gln (Ensembl:ENST00000536011) - c.65C>A (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs753815970 | 22 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.63681701C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681701C>G Locations: - p.Pro22Arg (Ensembl:ENST00000536011) - c.65C>G (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs1385854647 | 23 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000011.10:g.63681703T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681703T>C Locations: - p.Ser23Pro (Ensembl:ENST00000536011) - c.67T>C (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1319027273 | 24 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000011.10:g.63681706G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681706G>T Locations: - p.Ala24Ser (Ensembl:ENST00000536011) - c.70G>T (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1014253626 | 24 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000011.10:g.63681707C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681707C>T Locations: - p.Ala24Val (Ensembl:ENST00000536011) - c.71C>T (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs777965681 | 25 | P>L | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000011.10:g.63681710C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681710C>T Locations: - p.Pro25Leu (Ensembl:ENST00000536011) - c.74C>T (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs777965681 | 25 | P>R | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000011.10:g.63681710C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681710C>G Locations: - p.Pro25Arg (Ensembl:ENST00000536011) - c.74C>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1008222777 | 26 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000011.10:g.63681712G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681712G>A Locations: - p.Gly26Ser (Ensembl:ENST00000536011) - c.76G>A (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs769281138 | 27 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000011.10:g.63681716G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681716G>A Locations: - p.Gly27Asp (Ensembl:ENST00000536011) - c.80G>A (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs747445048 | 27 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000011.10:g.63681715G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681715G>A Locations: - p.Gly27Ser (Ensembl:ENST00000536011) - c.79G>A (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs1024999648 | 29 | G>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63681721G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681721G>T Locations: - p.Gly29Trp (Ensembl:ENST00000536011) - c.85G>T (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1590759427 | 30 | S>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000011.10:g.63681724A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681724A>G Locations: - p.Ser30Gly (Ensembl:ENST00000536011) - c.88A>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs750039081 | 30 | S>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000011.10:g.63681726C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681726C>A Locations: - p.Ser30Arg (Ensembl:ENST00000536011) - c.90C>A (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs532671990 | 31 | P>A | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000011.10:g.63681727C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681727C>G Locations: - p.Pro31Ala (Ensembl:ENST00000536011) - c.91C>G (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs11551945 | 31 | P>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000011.10:g.63681728C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681728C>A Locations: - p.Pro31Gln (Ensembl:ENST00000536011) - c.92C>A (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs11551945 | 31 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000011.10:g.63681728C>G Codon: CCA/CGA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681728C>G Locations: - p.Pro31Arg (Ensembl:ENST00000536011) - c.92C>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs532671990 | 31 | P>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000011.10:g.63681727C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681727C>T Locations: - p.Pro31Ser (Ensembl:ENST00000536011) - c.91C>T (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs1941058472 | 33 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000011.10:g.63681733G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681733G>A Locations: - p.Ala33Thr (Ensembl:ENST00000536011) - c.97G>A (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1464243722 | 33 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000011.10:g.63681734C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681734C>T Locations: - p.Ala33Val (Ensembl:ENST00000536011) - c.98C>T (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1941058846 | 34 | C>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.6) Somatic: No Accession: NC_000011.10:g.63681736T>A Codon: TGC/AGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681736T>A Locations: - p.Cys34Ser (Ensembl:ENST00000536011) - c.100T>A (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1258113418 | 35 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000011.10:g.63681740C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681740C>G Locations: - p.Pro35Arg (Ensembl:ENST00000536011) - c.104C>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs773910477 | 35 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000011.10:g.63681739C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681739C>T Locations: - p.Pro35Ser (Ensembl:ENST00000536011) - c.103C>T (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs773910477 | 35 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.63681739C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681739C>A Locations: - p.Pro35Thr (Ensembl:ENST00000536011) - c.103C>A (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs1195767915 | 36 | A>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.63681743C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681743C>G Locations: - p.Ala36Gly (Ensembl:ENST00000536011) - c.107C>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
COSV58030773 rs1590759561 | 36 | A>T | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.21) Somatic: Yes Accession: NC_000011.10:g.63681742G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681742G>A Locations: - p.Ala36Thr (Ensembl:ENST00000536011) - c.106G>A (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1195767915 | 36 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.63681743C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681743C>T Locations: - p.Ala36Val (Ensembl:ENST00000536011) - c.107C>T (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1364440014 | 37 | L>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000011.10:g.63681746T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681746T>A Locations: - p.Leu37Gln (Ensembl:ENST00000536011) - c.110T>A (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1364440014 | 37 | L>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000011.10:g.63681746T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681746T>G Locations: - p.Leu37Arg (Ensembl:ENST00000536011) - c.110T>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1187009783 | 37 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000011.10:g.63681745C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681745C>G Locations: - p.Leu37Val (Ensembl:ENST00000536011) - c.109C>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs966417012 | 38 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000011.10:g.63681748G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681748G>A Locations: - p.Gly38Arg (Ensembl:ENST00000536011) - c.112G>A (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1157172896 | 39 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.8) Somatic: No Accession: NC_000011.10:g.63681751A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681751A>G Locations: - p.Thr39Ala (Ensembl:ENST00000536011) - c.115A>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs772861103 | 39 | T>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000011.10:g.63681752C>G Codon: ACG/AGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681752C>G Locations: - p.Thr39Arg (Ensembl:ENST00000536011) - c.116C>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1941062360 | 40 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000011.10:g.63681756G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681756G>T Locations: - p.Lys40Asn (Ensembl:ENST00000536011) - c.120G>T (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs766474871 | 44 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.63681766T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681766T>C Locations: - p.Ser44Pro (Ensembl:ENST00000536011) - c.130T>C (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1941063326 | 45 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.63681770C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681770C>T Locations: - p.Ser45Phe (Ensembl:ENST00000536011) - c.134C>T (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1408472473 | 45 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.292) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.63681769T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681769T>C Locations: - p.Ser45Pro (Ensembl:ENST00000536011) - c.133T>C (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1453429873 | 46 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.63681773G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681773G>A Locations: - p.Cys46Tyr (Ensembl:ENST00000536011) - c.137G>A (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1302535668 | 47 | A>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.63681776C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681776C>A Locations: - p.Ala47Glu (Ensembl:ENST00000536011) - c.140C>A (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1302535668 | 47 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000011.10:g.63681776C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63681776C>T Locations: - p.Ala47Val (Ensembl:ENST00000536011) - c.140C>T (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
COSV100380118 rs368041098 | 50 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000003987 (gnomAD) Accession: NC_000011.10:g.63749996G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63749996G>A Locations: - p.D50N (NCI-TCGA:ENST00000536011) - p.Asp50Asn (Ensembl:ENST00000536011) - c.148G>A (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs368041098 | 50 | D>Y | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63749996G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63749996G>T Locations: - p.Asp50Tyr (Ensembl:ENST00000536011) - c.148G>T (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs919633583 | 55 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.914) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63750013A>T Codon: AGA/AGT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750013A>T Locations: - p.Arg55Ser (Ensembl:ENST00000536011) - c.165A>T (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1242442278 | 56 | D>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.656) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.63750016T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750016T>G Locations: - p.Asp56Glu (Ensembl:ENST00000536011) - c.168T>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs755131770 | 57 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.834) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.63750017G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750017G>C Locations: - p.Val57Leu (Ensembl:ENST00000536011) - c.169G>C (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs765446206 | 58 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.509) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000011.10:g.63750021A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750021A>G Locations: - p.Lys58Arg (Ensembl:ENST00000536011) - c.173A>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs200887875 | 61 | G>R | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.63750029G>C, NC_000011.10:g.63750029G>A Codon: GGG/CGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750029G>C, NC_000011.10:g.63750029G>A Locations: - p.Gly61Arg (Ensembl:ENST00000536011) - c.181G>C (Ensembl:ENST00000536011) - c.181G>A (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs758524415 | 63 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.837) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63750035G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750035G>C Locations: - p.Val63Leu (Ensembl:ENST00000536011) - c.187G>C (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1456885155 | 64 | F>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63750039T>G Codon: TTT/TGT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750039T>G Locations: - p.Phe64Cys (Ensembl:ENST00000536011) - c.191T>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs777758800 | 64 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63750040T>G Codon: TTT/TTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750040T>G Locations: - p.Phe64Leu (Ensembl:ENST00000536011) - c.192T>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs2014018452 | 65 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63750042G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750042G>T Locations: - p.Gly65Val (Ensembl:ENST00000536011) - c.194G>T (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs746239980 | 67 | T>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.63750048C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750048C>T Locations: - p.Thr67Met (Ensembl:ENST00000536011) - c.200C>T (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs1467131468 | 70 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.63750058G>C Codon: ATG/ATC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750058G>C Locations: - p.Met70Ile (Ensembl:ENST00000536011) - c.210G>C (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1424007856 | 70 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000011.10:g.63750056A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750056A>G Locations: - p.Met70Val (Ensembl:ENST00000536011) - c.208A>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs774170309 | 71 | L>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.63750059C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750059C>A Locations: - p.Leu71Met (Ensembl:ENST00000536011) - c.211C>A (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1402791689 | 71 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63750060T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750060T>C Locations: - p.Leu71Pro (Ensembl:ENST00000536011) - c.212T>C (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs139166869 | 73 | S>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63750065T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750065T>C Locations: - p.Ser73Pro (Ensembl:ENST00000536011) - c.217T>C (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs1168628509 | 75 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63750072C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750072C>G Locations: - p.Ala75Gly (Ensembl:ENST00000536011) - c.224C>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs371369557 | 81 | S>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63750089A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750089A>G Locations: - p.Ser81Gly (Ensembl:ENST00000536011) - c.241A>G (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs760647925 | 81 | S>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63750090G>T Codon: AGT/ATT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750090G>T Locations: - p.Ser81Ile (Ensembl:ENST00000536011) - c.242G>T (Ensembl:ENST00000536011) Source type: large scale study | |||||||
COSV58027056 rs760647925 | 81 | S>N | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.63750090G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750090G>A Locations: - p.Ser81Asn (Ensembl:ENST00000536011) - c.242G>A (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1386388794 | 83 | V>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63750095G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750095G>T Locations: - p.Val83Phe (Ensembl:ENST00000536011) - c.247G>T (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs2014021433 | 84 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63750099C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750099C>T Locations: - p.Ser84Phe (Ensembl:ENST00000536011) - c.251C>T (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1342709360 | 85 | Y>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.63750103C>A Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750103C>A Locations: - p.Tyr85Ter (Ensembl:ENST00000536011) - c.255C>A (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs759355605 | 89 | A>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63750114C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750114C>A Locations: - p.Ala89Asp (Ensembl:ENST00000536011) - c.266C>A (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs2014022023 | 89 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.276) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.63750113G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750113G>T Locations: - p.Ala89Ser (Ensembl:ENST00000536011) - c.265G>T (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs865951509 | 91 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63750119C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750119C>T Locations: - p.Leu91Phe (Ensembl:ENST00000536011) - c.271C>T (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs865951509 | 91 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63750119C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750119C>G Locations: - p.Leu91Val (Ensembl:ENST00000536011) - c.271C>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
COSV58027572 rs142293926 | 92 | S>F | cosmic curated 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.63750123C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750123C>T Locations: - p.Ser92Phe (Ensembl:ENST00000536011) - c.275C>T (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs752935644 | 94 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63750129C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750129C>T Locations: - p.Thr94Ile (Ensembl:ENST00000536011) - c.281C>T (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs752935644 | 94 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.63750129C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750129C>G Locations: - p.Thr94Ser (Ensembl:ENST00000536011) - c.281C>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1565343992 | 95 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.63750131A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750131A>G Locations: - p.Ile95Val (Ensembl:ENST00000536011) - c.283A>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs2014023739 | 100 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63750147A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750147A>G Locations: - p.Tyr100Cys (Ensembl:ENST00000536011) - c.299A>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
COSV58027167 rs764224300 | 103 | V>I | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000011.10:g.63750155G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750155G>A Locations: - p.Val103Ile (Ensembl:ENST00000536011) - c.307G>A (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1178666899 | 104 | I>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.63750160C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750160C>G Locations: - p.Ile104Met (Ensembl:ENST00000536011) - c.312C>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1590888083 | 104 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63750159T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750159T>C Locations: - p.Ile104Thr (Ensembl:ENST00000536011) - c.311T>C (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
COSV58027333 rs2014024500 | 104 | I>V | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.145) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000011.10:g.63750158A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750158A>G Locations: - p.Ile104Val (Ensembl:ENST00000536011) - c.310A>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs867417127 | 105 | Q>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63750161C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750161C>A Locations: - p.Gln105Lys (Ensembl:ENST00000536011) - c.313C>A (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1263633737 | 108 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.63750170C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750170C>T Locations: - p.Gln108Ter (Ensembl:ENST00000536011) - c.322C>T (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs2014025774 | 111 | E>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.877) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63750179G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750179G>C Locations: - p.Glu111Gln (Ensembl:ENST00000536011) - c.331G>C (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs200360547 | 112 | E>D | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.113) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000011.10:g.63750184A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750184A>C Locations: - p.Glu112Asp (Ensembl:ENST00000536011) - c.336A>C (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1478718798 | 112 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63750183A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750183A>G Locations: - p.Glu112Gly (Ensembl:ENST00000536011) - c.335A>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs201265477 | 112 | E>K | 1000Genomes ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63750182G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750182G>A Locations: - p.Glu112Lys (Ensembl:ENST00000536011) - c.334G>A (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs781772414 | 113 | G>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63750186G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750186G>C Locations: - p.Gly113Ala (Ensembl:ENST00000536011) - c.338G>C (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs781772414 | 113 | G>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63750186G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750186G>A Locations: - p.Gly113Asp (Ensembl:ENST00000536011) - c.338G>A (Ensembl:ENST00000536011) Source type: large scale study | |||||||
rs2014026941 | 117 | N>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.63750197A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63750197A>C Locations: - p.Asn117His (Ensembl:ENST00000536011) - c.349A>C (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs1315961758 | 120 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.63753077C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63753077C>T Locations: - p.Ser120Phe (Ensembl:ENST00000536011) - c.359C>T (Ensembl:ENST00000536011) Source type: large scale study Cross-references: | |||||||
rs2135057054 | 124 | *>W | Ensembl | ||||
Consequence: missense Somatic: No Accession: NC_000011.10:g.63753090A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.63753090A>G Locations: - p.Ter124TrpextTer1 (Ensembl:ENST00000536011) - c.372A>G (Ensembl:ENST00000536011) Source type: large scale study Cross-references: |