H3BV25 · H3BV25_HUMAN
- ProteinIntegrator complex subunit 14
- GeneINTS14
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs200500494 | 2 | P>L | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65607376G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607376G>A Locations: - p.Pro2Leu (Ensembl:ENST00000568573) - c.5C>T (Ensembl:ENST00000568573) Source type: large scale study | |||||||
rs1209008599 | 4 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000015.10:g.65607370A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607370A>G Locations: - p.Val4Ala (Ensembl:ENST00000568573) - c.11T>C (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs1310011749 | 5 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.265) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65607367A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607367A>G Locations: - p.Val5Ala (Ensembl:ENST00000568573) - c.14T>C (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
COSV57525718 rs778900825 | 6 | V>I | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.15) Somatic: Yes Accession: NC_000015.10:g.65607365C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607365C>T Locations: - p.Val6Ile (Ensembl:ENST00000568573) - c.16G>A (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs757350250 | 7 | M>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000015.10:g.65607360C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607360C>T Locations: - p.Met7Ile (Ensembl:ENST00000568573) - c.21G>A (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs1346518106 | 8 | D>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65607358T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607358T>A Locations: - p.Asp8Val (Ensembl:ENST00000568573) - c.23A>T (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
COSV108097462 rs2073693361 | 10 | S>P | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000015.10:g.65607353A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607353A>G Locations: - p.Ser10Pro (Ensembl:ENST00000568573) - c.28T>C (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs770965039 | 12 | S>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65607346G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607346G>T Locations: - p.Ser12Tyr (Ensembl:ENST00000568573) - c.35C>A (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs1278166280 | 14 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000015.10:g.65607341T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607341T>C Locations: - p.Thr14Ala (Ensembl:ENST00000568573) - c.40A>G (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs140249732 | 15 | R>* | ESP gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000015.10:g.65607338G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607338G>A Locations: - p.Arg15Ter (Ensembl:ENST00000568573) - c.43C>T (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs753938973 | 15 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65607337C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607337C>A Locations: - p.Arg15Leu (Ensembl:ENST00000568573) - c.44G>T (Ensembl:ENST00000568573) Source type: large scale study | |||||||
rs753938973 | 15 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65607337C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607337C>T Locations: - p.Arg15Gln (Ensembl:ENST00000568573) - c.44G>A (Ensembl:ENST00000568573) Source type: large scale study | |||||||
rs764460629 | 16 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65607335G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607335G>A Locations: - p.Pro16Ser (Ensembl:ENST00000568573) - c.46C>T (Ensembl:ENST00000568573) Source type: large scale study | |||||||
rs764460629 | 16 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65607335G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607335G>T Locations: - p.Pro16Thr (Ensembl:ENST00000568573) - c.46C>A (Ensembl:ENST00000568573) Source type: large scale study | |||||||
rs1465757763 | 17 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.69) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65607331A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607331A>G Locations: - p.Val17Ala (Ensembl:ENST00000568573) - c.50T>C (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs2073692196 | 17 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000015.10:g.65607332C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607332C>G Locations: - p.Val17Leu (Ensembl:ENST00000568573) - c.49G>C (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs2073692196 | 17 | V>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.895) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65607332C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607332C>T Locations: - p.Val17Met (Ensembl:ENST00000568573) - c.49G>A (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs752930272 | 19 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000015.10:g.65607325A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607325A>G Locations: - p.Ile19Thr (Ensembl:ENST00000568573) - c.56T>C (Ensembl:ENST00000568573) Source type: large scale study | |||||||
rs189663555 | 19 | I>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000015.10:g.65607326T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607326T>C Locations: - p.Ile19Val (Ensembl:ENST00000568573) - c.55A>G (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs774777375 | 21 | G>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000015.10:g.65607319C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607319C>G Locations: - p.Gly21Ala (Ensembl:ENST00000568573) - c.62G>C (Ensembl:ENST00000568573) Source type: large scale study | |||||||
rs774777375 | 21 | G>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000015.10:g.65607319C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607319C>T Locations: - p.Gly21Glu (Ensembl:ENST00000568573) - c.62G>A (Ensembl:ENST00000568573) Source type: large scale study | |||||||
rs1440894749 | 21 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000015.10:g.65607320C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607320C>T Locations: - p.Gly21Arg (Ensembl:ENST00000568573) - c.61G>A (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
COSV57528090 rs894075500 | 22 | S>C | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.335) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000015.10:g.65607316G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607316G>C Locations: - p.Ser22Cys (Ensembl:ENST00000568573) - c.65C>G (Ensembl:ENST00000568573) Source type: large scale study | |||||||
COSV57527733 rs761348752 | 23 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.71) - SIFT: deleterious (0.03) Somatic: Yes Population frequencies: - MAF: 0.00001988 (gnomAD) Accession: NC_000015.10:g.65607314C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607314C>T Locations: - p.E23K (NCI-TCGA:ENST00000568573) - p.Glu23Lys (Ensembl:ENST00000568573) - c.67G>A (Ensembl:ENST00000568573) Source type: large scale study | |||||||
rs1244648626 | 26 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000015.10:g.65607305G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607305G>A Locations: - p.Gln26Ter (Ensembl:ENST00000568573) - c.76C>T (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs1244293987 | 26 | Q>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000015.10:g.65607303C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607303C>G Locations: - p.Gln26His (Ensembl:ENST00000568573) - c.78G>C (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs146661331 | 27 | P>R | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000015.10:g.65605232G>C Codon: CCA/CGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65605232G>C Locations: - p.Pro27Arg (Ensembl:ENST00000568573) - c.80C>G (Ensembl:ENST00000568573) Source type: large scale study | |||||||
rs768104124 | 27 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000015.10:g.65607302G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65607302G>A Locations: - p.Pro27Ser (Ensembl:ENST00000568573) - c.79C>T (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
COSV106097294 rs199902660 | 28 | L>V | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.245) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000015.10:g.65605230G>C Codon: CTA/GTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65605230G>C Locations: - p.Leu28Val (Ensembl:ENST00000568573) - c.82C>G (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs2073602793 | 31 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000015.10:g.65605220A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65605220A>G Locations: - p.Met31Thr (Ensembl:ENST00000568573) - c.92T>C (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs529701261 | 31 | M>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000015.10:g.65605221T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65605221T>C Locations: - p.Met31Val (Ensembl:ENST00000568573) - c.91A>G (Ensembl:ENST00000568573) Source type: large scale study | |||||||
rs1596267578 | 32 | D>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.539) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65605217T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65605217T>A Locations: - p.Asp32Val (Ensembl:ENST00000568573) - c.95A>T (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs1369392215 | 34 | Y>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000015.10:g.65605211dup Codon: TAT/TAAT Consequence type: stop gained Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65605211dup Locations: - p.Tyr34Ter (Ensembl:ENST00000568573) - c.101dup (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs560909694 | 35 | D>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65605208T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65605208T>C Locations: - p.Asp35Gly (Ensembl:ENST00000568573) - c.104A>G (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs2073602326 | 35 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000015.10:g.65605209C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65605209C>T Locations: - p.Asp35Asn (Ensembl:ENST00000568573) - c.103G>A (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs560909694 | 35 | D>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65605208T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65605208T>A Locations: - p.Asp35Val (Ensembl:ENST00000568573) - c.104A>T (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs765730808 | 36 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000015.10:g.65605205T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65605205T>C Locations: - p.Lys36Arg (Ensembl:ENST00000568573) - c.107A>G (Ensembl:ENST00000568573) Source type: large scale study | |||||||
rs1382128953 | 37 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65605202G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65605202G>A Locations: - p.Thr37Ile (Ensembl:ENST00000568573) - c.110C>T (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs2073601407 | 38 | C>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000015.10:g.65605198G>T Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65605198G>T Locations: - p.Cys38Ter (Ensembl:ENST00000568573) - c.114C>A (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs2073601133 | 42 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.921) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65605188C>G Codon: GCA/CCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65605188C>G Locations: - p.Ala42Pro (Ensembl:ENST00000568573) - c.124G>C (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs1159999348 | 42 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.119) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000015.10:g.65605187G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65605187G>A Locations: - p.Ala42Val (Ensembl:ENST00000568573) - c.125C>T (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
COSV57526579 rs2073600813 | 45 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.917) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000015.10:g.65605178C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65605178C>T Locations: - p.G45D (NCI-TCGA:ENST00000568573) - p.Gly45Asp (Ensembl:ENST00000568573) - c.134G>A (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs760218537 | 47 | C>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.401) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65605171G>C Codon: TGC/TGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65605171G>C Locations: - p.Cys47Trp (Ensembl:ENST00000568573) - c.141C>G (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs542519735 | 48 | N>S | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000015.10:g.65605169T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65605169T>C Locations: - p.Asn48Ser (Ensembl:ENST00000568573) - c.143A>G (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs766892952 | 49 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000015.10:g.65605166A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65605166A>G Locations: - p.Ile49Thr (Ensembl:ENST00000568573) - c.146T>C (Ensembl:ENST00000568573) Source type: large scale study | |||||||
rs773811520 | 50 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000015.10:g.65605164C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65605164C>T Locations: - p.Val50Ile (Ensembl:ENST00000568573) - c.148G>A (Ensembl:ENST00000568573) Source type: large scale study | |||||||
rs770860130 | 52 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.744) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65605156T>G Codon: CAA/CAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65605156T>G Locations: - p.Gln52His (Ensembl:ENST00000568573) - c.156A>C (Ensembl:ENST00000568573) Source type: large scale study | |||||||
rs2073599157 | 53 | E>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65605154T>A Codon: GAA/GTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65605154T>A Locations: - p.Glu53Val (Ensembl:ENST00000568573) - c.158A>T (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs2073598672 | 54 | W>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000015.10:g.65605150C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65605150C>T Locations: - p.Trp54Ter (Ensembl:ENST00000568573) - c.162G>A (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs1207136858 | 56 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000015.10:g.65605145C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65605145C>T Locations: - p.Gly56Asp (Ensembl:ENST00000568573) - c.167G>A (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs1262299944 | 58 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.63) Somatic: No Accession: NC_000015.10:g.65605140T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65605140T>C Locations: - p.Ile58Val (Ensembl:ENST00000568573) - c.172A>G (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs762877256 | 62 | V>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.455) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65599929C>A Codon: GTT/TTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65599929C>A Locations: - p.Val62Phe (Ensembl:ENST00000568573) - c.184G>T (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs2073365129 | 62 | V>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65599928A>C Codon: GTT/GGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65599928A>C Locations: - p.Val62Gly (Ensembl:ENST00000568573) - c.185T>G (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs1271455570 | 63 | V>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65599926C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65599926C>A Locations: - p.Val63Phe (Ensembl:ENST00000568573) - c.187G>T (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs2141302183 | 65 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65599920C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65599920C>G Locations: - p.Val65Leu (Ensembl:ENST00000568573) - c.193G>C (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs769664027 | 66 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65599916G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65599916G>A Locations: - p.Thr66Ile (Ensembl:ENST00000568573) - c.197C>T (Ensembl:ENST00000568573) Source type: large scale study | |||||||
rs141290360 | 67 | D>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65599912G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65599912G>C Locations: - p.Asp67Glu (Ensembl:ENST00000568573) - c.201C>G (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs368300427 | 67 | D>Y | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65599914C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65599914C>A Locations: - p.Asp67Tyr (Ensembl:ENST00000568573) - c.199G>T (Ensembl:ENST00000568573) Source type: large scale study | |||||||
rs747057071 | 68 | G>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65599911C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65599911C>A Locations: - p.Gly68Cys (Ensembl:ENST00000568573) - c.202G>T (Ensembl:ENST00000568573) Source type: large scale study | |||||||
COSV100500089 rs747057071 | 68 | G>S | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000015.10:g.65599911C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65599911C>T Locations: - p.Gly68Ser (Ensembl:ENST00000568573) - c.202G>A (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs780296906 | 69 | C>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65599907C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65599907C>T Locations: - p.Cys69Tyr (Ensembl:ENST00000568573) - c.206G>A (Ensembl:ENST00000568573) Source type: large scale study | |||||||
rs2073363512 | 70 | L>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.401) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000015.10:g.65599905G>T Codon: CTT/ATT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65599905G>T Locations: - p.Leu70Ile (Ensembl:ENST00000568573) - c.208C>A (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs1170113090 | 72 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.089) - SIFT: tolerated (0.74) Somatic: No Accession: NC_000015.10:g.65599899T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65599899T>C Locations: - p.Ile72Val (Ensembl:ENST00000568573) - c.214A>G (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs1372133906 | 74 | R>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000015.10:g.65599892C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65599892C>T Locations: - p.Arg74Lys (Ensembl:ENST00000568573) - c.221G>A (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs2073362796 | 75 | G>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65599889C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65599889C>T Locations: - p.Gly75Glu (Ensembl:ENST00000568573) - c.224G>A (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs1384668497 | 75 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65599890C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65599890C>T Locations: - p.Gly75Arg (Ensembl:ENST00000568573) - c.223G>A (Ensembl:ENST00000568573) Source type: large scale study Cross-references: | |||||||
rs1596259119 | 76 | S>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65599887A>C Codon: TCA/GCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65599887A>C Locations: - p.Ser76Ala (Ensembl:ENST00000568573) - c.226T>G (Ensembl:ENST00000568573) Source type: large scale study Cross-references: |