Q8NHZ8 · CDC26_HUMAN
- ProteinAnaphase-promoting complex subunit CDC26
- GeneCDC26
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs755012783 | 2 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.113272503A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113272503A>G Locations: - p.Leu2Pro (Ensembl:ENST00000374206) - c.5T>C (Ensembl:ENST00000374206) Source type: large scale study | |||||||
rs199571847 | 4 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.113272498G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113272498G>A Locations: - p.Arg4Trp (Ensembl:ENST00000374206) - c.10C>T (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs1831974568 | 6 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.113272491G>C Codon: CCA/CGA Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113272491G>C Locations: - p.Pro6Arg (Ensembl:ENST00000374206) - c.17C>G (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs1831974516 | 7 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000009.12:g.113272489T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113272489T>C Locations: - p.Thr7Ala (Ensembl:ENST00000374206) - c.19A>G (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs1249776877 | 7 | T>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.284) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.113272488G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113272488G>C Locations: - p.Thr7Arg (Ensembl:ENST00000374206) - c.20C>G (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs746909885 | 8 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000009.12:g.113272486G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113272486G>A Locations: - p.Arg8Cys (Ensembl:ENST00000374206) - c.22C>T (Ensembl:ENST00000374206) Source type: large scale study | |||||||
COSV65252945 COSV65252961 rs780745708 | 8 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.01) - PolyPhen: benign (0) - SIFT: deleterious (0.05) Somatic: No Population frequencies: - MAF: 0.00001591 (gnomAD) Accession: NC_000009.12:g.113272485C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113272485C>T Locations: - p.R8H (NCI-TCGA:ENST00000374206) - p.Arg8His (Ensembl:ENST00000374206) - c.23G>A (Ensembl:ENST00000374206) Source type: large scale study | |||||||
rs1831974288 | 9 | L>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.76) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.113272482A>T Codon: CTA/CAA Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113272482A>T Locations: - p.Leu9Gln (Ensembl:ENST00000374206) - c.26T>A (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs140854363 | 11 | L>P | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.113272476A>G Codon: CTA/CCA Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113272476A>G Locations: - p.Leu11Pro (Ensembl:ENST00000374206) - c.32T>C (Ensembl:ENST00000374206) Source type: large scale study | |||||||
rs765575057 | 13 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.113272471G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113272471G>A Locations: - p.Leu13Phe (Ensembl:ENST00000374206) - c.37C>T (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs1474510761 | 15 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.587) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000009.12:g.113272465C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113272465C>T Locations: - p.Asp15Asn (Ensembl:ENST00000374206) - c.43G>A (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs757496266 | 16 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000009.12:g.113272461A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113272461A>G Locations: - p.Ile16Thr (Ensembl:ENST00000374206) - c.47T>C (Ensembl:ENST00000374206) Source type: large scale study | |||||||
rs141648756 | 21 | N>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.113272446T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113272446T>C Locations: - p.Asn21Ser (Ensembl:ENST00000374206) - c.62A>G (Ensembl:ENST00000374206) Source type: large scale study | |||||||
rs1405108167 | 22 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.113272443A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113272443A>G Locations: - p.Ile22Thr (Ensembl:ENST00000374206) - c.65T>C (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
COSV65252455 COSV65252455,COSV65253074 COSV65253074 | 23 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.113272441G>A Consequence type: stop gained Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113272441G>A Locations: - c.67C>T (NCI-TCGA:ENST00000374206) - p.R23* (NCI-TCGA:ENST00000374206) Source type: large scale study | |||||||
COSV65252464 COSV65252631 rs764264213 | 23 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.197) - SIFT: tolerated (0.09) - PolyPhen: benign (0.001) - SIFT: tolerated (0.07) Somatic: No Population frequencies: - MAF: 0.00001591 (gnomAD) Accession: NC_000009.12:g.113272440C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113272440C>T Locations: - p.R23Q (NCI-TCGA:ENST00000374206) - p.Arg23Gln (Ensembl:ENST00000374206) - c.68G>A (Ensembl:ENST00000374206) Source type: large scale study | |||||||
TCGA novel | 24 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.113272436C>A Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113272436C>A Locations: - c.72G>T (NCI-TCGA:ENST00000374206) - p.K24N (NCI-TCGA:ENST00000374206) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1391456952 | 25 | D>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.113272434T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113272434T>G Locations: - p.Asp25Ala (Ensembl:ENST00000374206) - c.74A>C (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
TCGA novel | 25 | D>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.113272433G>T Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113272433G>T Locations: - c.75C>A (NCI-TCGA:ENST00000374206) - p.D25E (NCI-TCGA:ENST00000374206) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1831973701 | 25 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.15) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.113272435C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113272435C>T Locations: - p.Asp25Asn (Ensembl:ENST00000374206) - c.73G>A (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs761300226 | 26 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.113272431A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113272431A>G Locations: - p.Leu26Pro (Ensembl:ENST00000374206) - c.77T>C (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs916754147 | 26 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.941) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.113272432G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113272432G>C Locations: - p.Leu26Val (Ensembl:ENST00000374206) - c.76C>G (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs372664792 | 27 | E>G | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.113272428T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113272428T>C Locations: - p.Glu27Gly (Ensembl:ENST00000374206) - c.80A>G (Ensembl:ENST00000374206) Source type: large scale study | |||||||
rs756180034 | 28 | T>A | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.75) Somatic: No Accession: NC_000009.12:g.113267439T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267439T>C Locations: - p.Thr28Ala (Ensembl:ENST00000374206) - c.82A>G (Ensembl:ENST00000374206) Source type: large scale study | |||||||
rs1192913736 | 28 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000009.12:g.113267438G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267438G>A Locations: - p.Thr28Ile (Ensembl:ENST00000374206) - c.83C>T (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs752774102 | 29 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000009.12:g.113267436G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267436G>A Locations: - p.Arg29Cys (Ensembl:ENST00000374206) - c.85C>T (Ensembl:ENST00000374206) Source type: large scale study | |||||||
rs752774102 | 29 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.113267436G>C Codon: CGT/GGT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267436G>C Locations: - p.Arg29Gly (Ensembl:ENST00000374206) - c.85C>G (Ensembl:ENST00000374206) Source type: large scale study | |||||||
rs377323426 | 29 | R>H | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000009.12:g.113267435C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267435C>T Locations: - p.Arg29His (Ensembl:ENST00000374206) - c.86G>A (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs1831880967 | 30 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.506) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.113267431C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267431C>A Locations: - p.Lys30Asn (Ensembl:ENST00000374206) - c.90G>T (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs182199537 | 31 | K>* | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.113267430T>A Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267430T>A Locations: - p.Lys31Ter (Ensembl:ENST00000374206) - c.91A>T (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs182199537 | 31 | K>E | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.947) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.113267430T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267430T>C Locations: - p.Lys31Glu (Ensembl:ENST00000374206) - c.91A>G (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs1318815100 | 33 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.113267422C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267422C>G Locations: - p.Lys33Asn (Ensembl:ENST00000374206) - c.99G>C (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs1564228162 | 33 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.113267423T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267423T>C Locations: - p.Lys33Arg (Ensembl:ENST00000374206) - c.98A>G (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs751991272 | 36 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.628) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.113267415C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267415C>T Locations: - p.Val36Met (Ensembl:ENST00000374206) - c.106G>A (Ensembl:ENST00000374206) Source type: large scale study | |||||||
TCGA novel | 37 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.9) Somatic: No Accession: NC_000009.12:g.113267410T>G Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267410T>G Locations: - c.111A>C (NCI-TCGA:ENST00000374206) - p.E37D (NCI-TCGA:ENST00000374206) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs375531444 | 37 | E>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.113267412C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267412C>G Locations: - p.Glu37Gln (Ensembl:ENST00000374206) - c.109G>C (Ensembl:ENST00000374206) Source type: large scale study | |||||||
rs1831880635 | 38 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000009.12:g.113267408A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267408A>G Locations: - p.Val38Ala (Ensembl:ENST00000374206) - c.113T>C (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs1831880508 | 40 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.371) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.113267403C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267403C>T Locations: - p.Gly40Arg (Ensembl:ENST00000374206) - c.118G>A (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
COSV65262122 | 42 | S>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.798) - SIFT: tolerated (0.17) Somatic: Yes Accession: NC_000009.12:g.113267396C>A Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267396C>A Locations: - c.125G>T (NCI-TCGA:ENST00000374206) - p.S42I (NCI-TCGA:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs369304209 | 45 | E>G | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000009.12:g.113267387T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267387T>C Locations: - p.Glu45Gly (Ensembl:ENST00000374206) - c.134A>G (Ensembl:ENST00000374206) Source type: large scale study | |||||||
rs776232929 | 47 | A>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.487) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.113267381G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267381G>T Locations: - p.Ala47Asp (Ensembl:ENST00000374206) - c.140C>A (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs906519767 | 48 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000009.12:g.113267379T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267379T>C Locations: - p.Ile48Val (Ensembl:ENST00000374206) - c.142A>G (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs568260328 | 50 | L>F | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000009.12:g.113267373G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267373G>A Locations: - p.Leu50Phe (Ensembl:ENST00000374206) - c.148C>T (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
TCGA novel | 52 | S>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000009.12:g.113267367T>C Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267367T>C Locations: - c.154A>G (NCI-TCGA:ENST00000374206) - p.S52G (NCI-TCGA:ENST00000374206) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs775003535 | 52 | S>N | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000009.12:g.113267366C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267366C>T Locations: - p.Ser52Asn (Ensembl:ENST00000374206) - c.155G>A (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs775003535 | 52 | S>T | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000009.12:g.113267366C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267366C>G Locations: - p.Ser52Thr (Ensembl:ENST00000374206) - c.155G>C (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs1401937682 | 53 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000009.12:g.113267362A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267362A>T Locations: - p.Asp53Glu (Ensembl:ENST00000374206) - c.159T>A (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs771907668 | 54 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000009.12:g.113267360G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267360G>A Locations: - p.Pro54Leu (Ensembl:ENST00000374206) - c.161C>T (Ensembl:ENST00000374206) Source type: large scale study | |||||||
rs1831879904 | 55 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.113267356C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267356C>G Locations: - p.Lys55Asn (Ensembl:ENST00000374206) - c.165G>C (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs770825288 | 57 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0.02) - PolyPhen: benign (0.001) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0.00001663 (gnomAD) Accession: NC_000009.12:g.113267351C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267351C>T Locations: - p.R57Q (NCI-TCGA:ENST00000374206) - p.Arg57Gln (Ensembl:ENST00000374206) - c.170G>A (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs565170750 | 57 | R>W | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000009.12:g.113267352G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267352G>A Locations: - p.Arg57Trp (Ensembl:ENST00000374206) - c.169C>T (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs946626456 | 59 | Q>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.829) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000009.12:g.113267346G>T Codon: CAA/AAA Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267346G>T Locations: - p.Gln59Lys (Ensembl:ENST00000374206) - c.175C>A (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs749054353 | 61 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.748) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000009.12:g.113267340T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267340T>C Locations: - p.Ile61Val (Ensembl:ENST00000374206) - c.181A>G (Ensembl:ENST00000374206) Source type: large scale study | |||||||
rs1431332857 | 64 | R>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.113267331G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267331G>A Locations: - p.Arg64Trp (Ensembl:ENST00000374206) - c.190C>T (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs1831879399 | 65 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.939) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.113267327A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267327A>G Locations: - p.Ile65Thr (Ensembl:ENST00000374206) - c.194T>C (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs893764381 | 70 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: tolerated (0.6) Somatic: No Accession: NC_000009.12:g.113267311T>G Codon: CAA/CAC Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267311T>G Locations: - p.Gln70His (Ensembl:ENST00000374206) - c.210A>C (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs1329046766 | 70 | Q>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000009.12:g.113267312T>A Codon: CAA/CTA Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267312T>A Locations: - p.Gln70Leu (Ensembl:ENST00000374206) - c.209A>T (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs777881715 | 71 | P>L | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000009.12:g.113267309G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267309G>A Locations: - p.Pro71Leu (Ensembl:ENST00000374206) - c.212C>T (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs1252322832 | 71 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.182) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000009.12:g.113267310G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267310G>A Locations: - p.Pro71Ser (Ensembl:ENST00000374206) - c.211C>T (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs1439746596 | 73 | P>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000009.12:g.113267304G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267304G>C Locations: - p.Pro73Ala (Ensembl:ENST00000374206) - c.217C>G (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs909710500 | 74 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.176) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000009.12:g.113267300T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267300T>C Locations: - p.Asn74Ser (Ensembl:ENST00000374206) - c.221A>G (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
TCGA novel | 75 | N>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.113267297T>G Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267297T>G Locations: - c.224A>C (NCI-TCGA:ENST00000374206) - p.N75T (NCI-TCGA:ENST00000374206) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs756303809 | 76 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.564) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.113267295G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267295G>A Locations: - p.Arg76Cys (Ensembl:ENST00000374206) - c.226C>T (Ensembl:ENST00000374206) Source type: large scale study | |||||||
rs137925599 | 76 | R>H | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000009.12:g.113267294C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267294C>T Locations: - p.Arg76His (Ensembl:ENST00000374206) - c.227G>A (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs781330526 | 77 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.113267292A>G Codon: TCA/CCA Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267292A>G Locations: - p.Ser77Pro (Ensembl:ENST00000374206) - c.229T>C (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs752042591 | 78 | S>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.74) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.113267288G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267288G>C Locations: - p.Ser78Cys (Ensembl:ENST00000374206) - c.233C>G (Ensembl:ENST00000374206) Source type: large scale study | |||||||
rs1321439127 | 81 | G>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.113267279C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267279C>T Locations: - p.Gly81Glu (Ensembl:ENST00000374206) - c.242G>A (Ensembl:ENST00000374206) Source type: large scale study Cross-references: | |||||||
COSV100951789 | 83 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000009.12:g.113267274G>A Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267274G>A Locations: - c.247C>T (NCI-TCGA:ENST00000374206) - p.L83F (NCI-TCGA:ENST00000374206) Source type: large scale study Cross-references: | |||||||
rs1235537796 | 83 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.113267273A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 9q32 Genomic location: NC_000009.12:g.113267273A>G Locations: - p.Leu83Pro (Ensembl:ENST00000374206) - c.248T>C (Ensembl:ENST00000374206) Source type: large scale study Cross-references: |