Q01469 · FABP5_HUMAN
- ProteinFatty acid-binding protein 5
- GeneFABP5
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids135 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV99793153 rs1807808951 | 2 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed | |||
Consequence: missense Predictions: - SIFT: deleterious (0.04) - PolyPhen: benign (0.309) - SIFT: deleterious - low confidence (0.05) Somatic: Yes Accession: NC_000008.11:g.81280599G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81280599G>A Locations: - p.A2T (NCI-TCGA:ENST00000297258) - p.Ala2Thr (Ensembl:ENST00000297258) - c.4G>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1189641451 | 3 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.81280603C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81280603C>T Locations: - p.Thr3Ile (Ensembl:ENST00000297258) - c.8C>T (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs757285600 | 5 | Q>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.81280608C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81280608C>T Locations: - p.Gln5Ter (Ensembl:ENST00000297258) - c.13C>T (Ensembl:ENST00000297258) Source type: large scale study | |||||||
rs1454715447 | 5 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.81280610G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81280610G>C Locations: - p.Gln5His (Ensembl:ENST00000297258) - c.15G>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs757285600 | 5 | Q>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: NC_000008.11:g.81280608C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81280608C>A Locations: - p.Gln5Lys (Ensembl:ENST00000297258) - c.13C>A (Ensembl:ENST00000297258) Source type: large scale study | |||||||
rs1306576138 | 5 | Q>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.81280609A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81280609A>C Locations: - p.Gln5Pro (Ensembl:ENST00000297258) - c.14A>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1306576138 | 5 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.81280609A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81280609A>G Locations: - p.Gln5Arg (Ensembl:ENST00000297258) - c.14A>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1320301683 | 6 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000008.11:g.81280613G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81280613G>C Locations: - p.Gln6His (Ensembl:ENST00000297258) - c.18G>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1176090312 | 6 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000008.11:g.81280612A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81280612A>G Locations: - p.Gln6Arg (Ensembl:ENST00000297258) - c.17A>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1378985653 | 8 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000008.11:g.81280617G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81280617G>A Locations: - p.Glu8Lys (Ensembl:ENST00000297258) - c.22G>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1160252724 | 9 | G>E | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.81280621G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81280621G>A Locations: - p.Gly9Glu (Ensembl:ENST00000297258) - c.26G>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs765380088 | 9 | G>R | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.81280620G>A, NC_000008.11:g.81280620G>C Codon: GGA/AGA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81280620G>A, NC_000008.11:g.81280620G>C Locations: - p.Gly9Arg (Ensembl:ENST00000297258) - c.25G>A (Ensembl:ENST00000297258) - c.25G>C (Ensembl:ENST00000297258) Source type: large scale study | |||||||
rs750516521 | 12 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000008.11:g.81280630G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81280630G>A Locations: - p.Arg12His (Ensembl:ENST00000297258) - c.35G>A (Ensembl:ENST00000297258) Source type: large scale study | |||||||
rs1311146421 | 14 | V>E | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000008.11:g.81280636T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81280636T>A Locations: - p.Val14Glu (Ensembl:ENST00000297258) - c.41T>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs758612549 | 16 | S>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000008.11:g.81280641A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81280641A>T Locations: - p.Ser16Cys (Ensembl:ENST00000297258) - c.46A>T (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs758612549 | 16 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.81280641A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81280641A>G Locations: - p.Ser16Gly (Ensembl:ENST00000297258) - c.46A>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1369618735 | 18 | G>A | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.81280648G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81280648G>C Locations: - p.Gly18Ala (Ensembl:ENST00000297258) - c.53G>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1323435436 | 18 | G>S | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.81280647G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81280647G>A Locations: - p.Gly18Ser (Ensembl:ENST00000297258) - c.52G>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs369649341 | 20 | D>E | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.41) Somatic: No Accession: NC_000008.11:g.81280655T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81280655T>A Locations: - p.Asp20Glu (Ensembl:ENST00000297258) - c.60T>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1440931911 | 20 | D>N | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.81280653G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81280653G>A Locations: - p.Asp20Asn (Ensembl:ENST00000297258) - c.58G>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1807810220 | 20 | D>V | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.81280654A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81280654A>T Locations: - p.Asp20Val (Ensembl:ENST00000297258) - c.59A>T (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs780203835 | 23 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000008.11:g.81280662A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81280662A>G Locations: - p.Met23Val (Ensembl:ENST00000297258) - c.67A>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1340401637 | 25 | E>D | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.81280670G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81280670G>C Locations: - p.Glu25Asp (Ensembl:ENST00000297258) - c.75G>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1223049745 | 25 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000008.11:g.81280668G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81280668G>A Locations: - p.Glu25Lys (Ensembl:ENST00000297258) - c.73G>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1284716414 | 26 | L>I | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000008.11:g.81280671C>A Codon: CTA/ATA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81280671C>A Locations: - p.Leu26Ile (Ensembl:ENST00000297258) - c.76C>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1284716414 | 26 | L>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000008.11:g.81280671C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81280671C>G Locations: - p.Leu26Val (Ensembl:ENST00000297258) - c.76C>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs773934321 | 27 | G>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.81283366G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283366G>A Locations: - p.Gly27Glu (Ensembl:ENST00000297258) - c.80G>A (Ensembl:ENST00000297258) Source type: large scale study | |||||||
rs1217122507 | 28 | V>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.81283369T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283369T>A Locations: - p.Val28Glu (Ensembl:ENST00000297258) - c.83T>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1251130707 | 28 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.81283368G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283368G>A Locations: - p.Val28Met (Ensembl:ENST00000297258) - c.82G>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs764472250 | 29 | G>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.81283372G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283372G>A Locations: - p.Gly29Glu (Ensembl:ENST00000297258) - c.86G>A (Ensembl:ENST00000297258) Source type: large scale study | |||||||
rs760972728 | 29 | G>R | ExAC | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.81283371G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283371G>A Locations: - p.Gly29Arg (Ensembl:ENST00000297258) - c.85G>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1807865066 | 30 | I>T | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000008.11:g.81283375T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283375T>C Locations: - p.Ile30Thr (Ensembl:ENST00000297258) - c.89T>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1472048412 | 31 | A>D | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.81283378C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283378C>A Locations: - p.Ala31Asp (Ensembl:ENST00000297258) - c.92C>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1472048412 | 31 | A>G | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.81283378C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283378C>G Locations: - p.Ala31Gly (Ensembl:ENST00000297258) - c.92C>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs377673102 | 33 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00001266 (gnomAD) Accession: NC_000008.11:g.81283383C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283383C>T Locations: - p.R33* (NCI-TCGA:ENST00000297258) - p.Arg33Ter (Ensembl:ENST00000297258) - c.97C>T (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1416771635 | 33 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: deleterious (0.04) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0.000008441 (gnomAD) Accession: NC_000008.11:g.81283384G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283384G>A Locations: - p.R33Q (NCI-TCGA:ENST00000297258) - p.Arg33Gln (Ensembl:ENST00000297258) - c.98G>A (Ensembl:ENST00000297258) Source type: large scale study | |||||||
rs140196713 | 34 | K>E | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.81283386A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283386A>G Locations: - p.Lys34Glu (Ensembl:ENST00000297258) - c.100A>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs762285227 | 36 | G>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.81283393G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283393G>A Locations: - p.Gly36Asp (Ensembl:ENST00000297258) - c.107G>A (Ensembl:ENST00000297258) Source type: large scale study | |||||||
rs372989580 | 37 | A>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: NC_000008.11:g.81283395G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283395G>T Locations: - p.Ala37Ser (Ensembl:ENST00000297258) - c.109G>T (Ensembl:ENST00000297258) Source type: large scale study | |||||||
rs372989580 | 37 | A>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000008.11:g.81283395G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283395G>A Locations: - p.Ala37Thr (Ensembl:ENST00000297258) - c.109G>A (Ensembl:ENST00000297258) Source type: large scale study | |||||||
rs1408802061 | 38 | M>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.81283400G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283400G>A Locations: - p.Met38Ile (Ensembl:ENST00000297258) - c.114G>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs751762311 | 38 | M>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000008.11:g.81283398A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283398A>G Locations: - p.Met38Val (Ensembl:ENST00000297258) - c.112A>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
COSV99793013 | 42 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.154) - SIFT: tolerated (0.42) Somatic: Yes Accession: NC_000008.11:g.81283410G>A Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283410G>A Locations: - c.124G>A (NCI-TCGA:ENST00000297258) - p.D42N (NCI-TCGA:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs145774881 | 44 | I>F | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.81283416A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283416A>T Locations: - p.Ile44Phe (Ensembl:ENST00000297258) - c.130A>T (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs751839234 | 44 | I>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000008.11:g.81283417T>G Codon: ATC/AGC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283417T>G Locations: - p.Ile44Ser (Ensembl:ENST00000297258) - c.131T>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
COSV99793062 rs145774881 | 44 | I>V | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: Yes Accession: NC_000008.11:g.81283416A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283416A>G Locations: - p.Ile44Val (Ensembl:ENST00000297258) - c.130A>G (Ensembl:ENST00000297258) Source type: large scale study | |||||||
rs1807865943 | 50 | K>R | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.81283435A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283435A>G Locations: - p.Lys50Arg (Ensembl:ENST00000297258) - c.149A>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
COSV99793028 rs1235407356 | 51 | N>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.346) - SIFT: tolerated (0.41) - SIFT: tolerated (0.52) Somatic: Yes Population frequencies: - MAF: 0.000004016 (gnomAD) Accession: NC_000008.11:g.81283438A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283438A>T Locations: - p.N51I (NCI-TCGA:ENST00000297258) - p.Asn51Ile (Ensembl:ENST00000297258) - c.152A>T (Ensembl:ENST00000297258) Source type: large scale study | |||||||
rs752591369 | 53 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.81283443A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283443A>G Locations: - p.Thr53Ala (Ensembl:ENST00000297258) - c.157A>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs752591369 | 53 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000008.11:g.81283443A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283443A>T Locations: - p.Thr53Ser (Ensembl:ENST00000297258) - c.157A>T (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
COSV51917621 rs756048082 | 54 | I>V | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: Yes Accession: NC_000008.11:g.81283446A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283446A>G Locations: - p.Ile54Val (Ensembl:ENST00000297258) - c.160A>G (Ensembl:ENST00000297258) Source type: large scale study | |||||||
rs777638387 | 55 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.345) - SIFT: deleterious (0.02) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.81283451A>C Codon: AAA/AAC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283451A>C Locations: - p.K55N (NCI-TCGA:ENST00000297258) - p.Lys55Asn (Ensembl:ENST00000297258) - c.165A>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1210682317 | 58 | S>N | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.81283459G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283459G>A Locations: - p.Ser58Asn (Ensembl:ENST00000297258) - c.173G>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1807866467 | 60 | L>S | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.81283465T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283465T>C Locations: - p.Leu60Ser (Ensembl:ENST00000297258) - c.179T>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs770362088 | 61 | K>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.81283467A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283467A>C Locations: - p.Lys61Gln (Ensembl:ENST00000297258) - c.181A>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs778495368 | 63 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000008.11:g.81283473A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283473A>G Locations: - p.Thr63Ala (Ensembl:ENST00000297258) - c.187A>G (Ensembl:ENST00000297258) Source type: large scale study | |||||||
rs1474831502 | 63 | T>K | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.81283474C>A Codon: ACA/AAA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283474C>A Locations: - p.Thr63Lys (Ensembl:ENST00000297258) - c.188C>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs140757231 | 65 | F>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.81283480T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283480T>C Locations: - p.Phe65Ser (Ensembl:ENST00000297258) - c.194T>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs140757231 | 65 | F>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.81283480T>A Codon: TTT/TAT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283480T>A Locations: - p.Phe65Tyr (Ensembl:ENST00000297258) - c.194T>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1421625271 | 66 | S>P | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.81283482T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283482T>C Locations: - p.Ser66Pro (Ensembl:ENST00000297258) - c.196T>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs771761568 | 68 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.81283489C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283489C>T Locations: - p.Thr68Ile (Ensembl:ENST00000297258) - c.203C>T (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs771761568 | 68 | T>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000008.11:g.81283489C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283489C>A Locations: - p.Thr68Asn (Ensembl:ENST00000297258) - c.203C>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1196978229 | 72 | K>N | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.81283502G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283502G>T Locations: - p.Lys72Asn (Ensembl:ENST00000297258) - c.216G>T (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs776949338 | 72 | K>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.81283501A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283501A>C Locations: - p.Lys72Thr (Ensembl:ENST00000297258) - c.215A>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs145546165 | 73 | F>L | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.81283503T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283503T>C Locations: - p.Phe73Leu (Ensembl:ENST00000297258) - c.217T>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1158772404 | 73 | F>Y | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.81283504T>A Codon: TTT/TAT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283504T>A Locations: - p.Phe73Tyr (Ensembl:ENST00000297258) - c.218T>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1416337079 | 74 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000008.11:g.81283506G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283506G>A Locations: - p.Glu74Lys (Ensembl:ENST00000297258) - c.220G>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1316572989 | 75 | E>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.81283510A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283510A>C Locations: - p.Glu75Ala (Ensembl:ENST00000297258) - c.224A>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs762148642 | 76 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000008.11:g.81283513C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283513C>T Locations: - p.Thr76Ile (Ensembl:ENST00000297258) - c.227C>T (Ensembl:ENST00000297258) Source type: large scale study | |||||||
rs1228296842 | 78 | A>T | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.81283518G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283518G>A Locations: - p.Ala78Thr (Ensembl:ENST00000297258) - c.232G>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs141315419 | 79 | D>N | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.81283521G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283521G>A Locations: - p.Asp79Asn (Ensembl:ENST00000297258) - c.235G>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs886103048 | 79 | D>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.81283522A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283522A>T Locations: - p.Asp79Val (Ensembl:ENST00000297258) - c.236A>T (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs770317669 | 80 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000008.11:g.81283524G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283524G>A Locations: - p.Gly80Ser (Ensembl:ENST00000297258) - c.238G>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1807867804 | 81 | R>G | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.81283527A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283527A>G Locations: - p.Arg81Gly (Ensembl:ENST00000297258) - c.241A>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1807867891 | 83 | T>P | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.81283533A>C Codon: ACT/CCT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283533A>C Locations: - p.Thr83Pro (Ensembl:ENST00000297258) - c.247A>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs141453643 | 86 | V>A | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.81283877T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283877T>C Locations: - p.Val86Ala (Ensembl:ENST00000297258) - c.257T>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs770055478 | 86 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_000008.11:g.81283876G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283876G>C Locations: - p.Val86Leu (Ensembl:ENST00000297258) - c.256G>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs773732171 | 88 | N>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.81283882A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283882A>G Locations: - p.Asn88Asp (Ensembl:ENST00000297258) - c.262A>G (Ensembl:ENST00000297258) Source type: large scale study | |||||||
COSV51917186 rs763394711 | 88 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.17) - SIFT: tolerated (0.27) Somatic: Yes Population frequencies: - MAF: 0.00001205 (gnomAD) Accession: NC_000008.11:g.81283883A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283883A>G Locations: - p.N88S (NCI-TCGA:ENST00000297258) - p.Asn88Ser (Ensembl:ENST00000297258) - c.263A>G (Ensembl:ENST00000297258) Source type: large scale study | |||||||
rs1807872380 | 89 | F>C | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000008.11:g.81283886T>G Codon: TTT/TGT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283886T>G Locations: - p.Phe89Cys (Ensembl:ENST00000297258) - c.266T>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1807872345 | 89 | F>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000008.11:g.81283885T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283885T>G Locations: - p.Phe89Val (Ensembl:ENST00000297258) - c.265T>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs201830389 | 90 | T>A | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.53) Somatic: No Accession: NC_000008.11:g.81283888A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283888A>G Locations: - p.Thr90Ala (Ensembl:ENST00000297258) - c.268A>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs771618416 | 90 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000008.11:g.81283889C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283889C>T Locations: - p.Thr90Ile (Ensembl:ENST00000297258) - c.269C>T (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs774544819 | 91 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000008.11:g.81283892A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283892A>G Locations: - p.Asp91Gly (Ensembl:ENST00000297258) - c.272A>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1461024778 | 91 | D>N | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.66) Somatic: No Accession: NC_000008.11:g.81283891G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283891G>A Locations: - p.Asp91Asn (Ensembl:ENST00000297258) - c.271G>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs199758626 | 92 | G>R | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.81283894G>C Codon: GGT/CGT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283894G>C Locations: - p.Gly92Arg (Ensembl:ENST00000297258) - c.274G>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1373223531 | 92 | G>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.81283895G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283895G>T Locations: - p.Gly92Val (Ensembl:ENST00000297258) - c.275G>T (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs759757795 | 93 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: NC_000008.11:g.81283897G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283897G>A Locations: - p.Ala93Thr (Ensembl:ENST00000297258) - c.277G>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs2131269058 | 94 | L>S | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.81283901T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283901T>C Locations: - p.Leu94Ser (Ensembl:ENST00000297258) - c.281T>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs200065410 | 95 | V>I | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: No Accession: NC_000008.11:g.81283903G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283903G>A Locations: - p.Val95Ile (Ensembl:ENST00000297258) - c.283G>A (Ensembl:ENST00000297258) Source type: large scale study | |||||||
COSV107384416 rs1807872903 | 97 | H>L | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.77) Somatic: Yes Accession: NC_000008.11:g.81283910A>T Codon: CAT/CTT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283910A>T Locations: - p.His97Leu (Ensembl:ENST00000297258) - c.290A>T (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs150855563 | 97 | H>N | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: tolerated (0.56) Somatic: No Accession: NC_000008.11:g.81283909C>A Codon: CAT/AAT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283909C>A Locations: - p.His97Asn (Ensembl:ENST00000297258) - c.289C>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
RCV000891954 rs150855563 | 97 | H>Y | Benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - SIFT: tolerated (0.83) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000008.11:g.81283909C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283909C>T Locations: - p.His97Tyr (Ensembl:ENST00000297258) - c.289C>T (Ensembl:ENST00000297258) Source type: large scale study | |||||||
rs1241609990 | 98 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.81283913A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283913A>G Locations: - p.Gln98Arg (Ensembl:ENST00000297258) - c.293A>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs139325159 | 99 | E>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.81283915G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283915G>T Locations: - p.Glu99Ter (Ensembl:ENST00000297258) - c.295G>T (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs142936320 | 100 | W>C | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.81283920G>C Codon: TGG/TGC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283920G>C Locations: - p.Trp100Cys (Ensembl:ENST00000297258) - c.300G>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1261575935 | 101 | D>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.155) - SIFT: deleterious (0.01) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.81283922A>C Codon: GAT/GCT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283922A>C Locations: - p.D101A (NCI-TCGA:ENST00000297258) - p.Asp101Ala (Ensembl:ENST00000297258) - c.302A>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1212580058 | 101 | D>E | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000008.11:g.81283923T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283923T>G Locations: - p.Asp101Glu (Ensembl:ENST00000297258) - c.303T>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs763815393 | 101 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000008.11:g.81283921G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283921G>A Locations: - p.Asp101Asn (Ensembl:ENST00000297258) - c.301G>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
COSV51917146 COSV99793164 rs1190690497 | 102 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: deleterious (0.01) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000008.11:g.81283924G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283924G>A Locations: - p.G102R (NCI-TCGA:ENST00000297258) - p.Gly102Arg (Ensembl:ENST00000297258) - c.304G>A (Ensembl:ENST00000297258) Source type: large scale study | |||||||
COSV51917364 | 104 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.84) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000008.11:g.81283932A>C Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283932A>C Locations: - c.312A>C (NCI-TCGA:ENST00000297258) - p.E104D (NCI-TCGA:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs753714375 | 104 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000008.11:g.81283930G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283930G>A Locations: - p.Glu104Lys (Ensembl:ENST00000297258) - c.310G>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
COSV51917918 rs757111208 | 105 | S>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0.04) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000008031 (gnomAD) Accession: NC_000008.11:g.81283934G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283934G>T Locations: - p.S105I (NCI-TCGA:ENST00000297258) - p.Ser105Ile (Ensembl:ENST00000297258) - c.314G>T (Ensembl:ENST00000297258) Source type: large scale study | |||||||
rs749917972 | 107 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000008.11:g.81283940T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283940T>C Locations: - p.Ile107Thr (Ensembl:ENST00000297258) - c.320T>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs765225550 | 107 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.81283939A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283939A>G Locations: - p.Ile107Val (Ensembl:ENST00000297258) - c.319A>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs757793202 | 108 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000008.11:g.81283942A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283942A>G Locations: - p.Thr108Ala (Ensembl:ENST00000297258) - c.322A>G (Ensembl:ENST00000297258) Source type: large scale study | |||||||
rs1807873643 | 108 | T>R | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000008.11:g.81283943C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283943C>G Locations: - p.Thr108Arg (Ensembl:ENST00000297258) - c.323C>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs368489863 | 109 | R>T | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.81283946G>C Codon: AGA/ACA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283946G>C Locations: - p.Arg109Thr (Ensembl:ENST00000297258) - c.326G>C (Ensembl:ENST00000297258) Source type: large scale study | |||||||
rs1807873999 | 113 | D>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.81283958A>C Codon: GAT/GCT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283958A>C Locations: - p.Asp113Ala (Ensembl:ENST00000297258) - c.338A>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs201120689 | 113 | D>N | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000008.11:g.81283957G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283957G>A Locations: - p.Asp113Asn (Ensembl:ENST00000297258) - c.337G>A (Ensembl:ENST00000297258) Source type: large scale study | |||||||
rs201120689 | 113 | D>Y | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.81283957G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283957G>T Locations: - p.Asp113Tyr (Ensembl:ENST00000297258) - c.337G>T (Ensembl:ENST00000297258) Source type: large scale study | |||||||
COSV51917500 rs1393545719 | 114 | G>E | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000008.11:g.81283961G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283961G>A Locations: - p.Gly114Glu (Ensembl:ENST00000297258) - c.341G>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs75108814 | 114 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.81283960G>C, NC_000008.11:g.81283960G>A Codon: GGG/CGG Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283960G>C, NC_000008.11:g.81283960G>A Locations: - p.Gly114Arg (Ensembl:ENST00000297258) - c.340G>C (Ensembl:ENST00000297258) - c.340G>A (Ensembl:ENST00000297258) Source type: large scale study | |||||||
rs376469447 | 115 | K>E | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.81283963A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283963A>G Locations: - p.Lys115Glu (Ensembl:ENST00000297258) - c.343A>G (Ensembl:ENST00000297258) Source type: large scale study | |||||||
rs889947968 | 115 | K>R | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.81283964A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283964A>G Locations: - p.Lys115Arg (Ensembl:ENST00000297258) - c.344A>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs745885500 | 116 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.81283968A>T Codon: TTA/TTT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283968A>T Locations: - p.Leu116Phe (Ensembl:ENST00000297258) - c.348A>T (Ensembl:ENST00000297258) Source type: large scale study | |||||||
COSV51917138 | 116 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.712) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000008.11:g.81283966T>A Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283966T>A Locations: - c.346T>A (NCI-TCGA:ENST00000297258) - p.L116I (NCI-TCGA:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs772284450 | 117 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000008.11:g.81283969G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283969G>A Locations: - p.Val117Met (Ensembl:ENST00000297258) - c.349G>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1293462991 | 118 | V>G | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.81283973T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81283973T>G Locations: - p.Val118Gly (Ensembl:ENST00000297258) - c.353T>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1807881738 | 119 | E>D | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000008.11:g.81284516G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81284516G>C Locations: - p.Glu119Asp (Ensembl:ENST00000297258) - c.357G>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs200536503 | 120 | C>F | 1000Genomes TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.81284518G>T Codon: TGT/TTT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81284518G>T Locations: - p.Cys120Phe (Ensembl:ENST00000297258) - c.359G>T (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs780969092 | 121 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_000008.11:g.81284520G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81284520G>A Locations: - p.Val121Ile (Ensembl:ENST00000297258) - c.361G>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs544263962 | 122 | M>I | 1000Genomes ExAC | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000008.11:g.81284525G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81284525G>T Locations: - p.Met122Ile (Ensembl:ENST00000297258) - c.366G>T (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1239471925 | 122 | M>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000008.11:g.81284523A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81284523A>G Locations: - p.Met122Val (Ensembl:ENST00000297258) - c.364A>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs779497353 | 124 | N>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_000008.11:g.81284529A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81284529A>G Locations: - p.Asn124Asp (Ensembl:ENST00000297258) - c.370A>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs779497353 | 124 | N>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.81284529A>C Codon: AAT/CAT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81284529A>C Locations: - p.Asn124His (Ensembl:ENST00000297258) - c.370A>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
CA235536 COSV107384417 RCV000162280 rs431905491 | 124 | N>S | ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: Yes Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000008.11:g.81284530A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81284530A>G Locations: - p.Asn124Ser (Ensembl:ENST00000297258) - c.371A>G (Ensembl:ENST00000297258) Source type: large scale study | |||||||
rs779497353 | 124 | N>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.81284529A>T Codon: AAT/TAT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81284529A>T Locations: - p.Asn124Tyr (Ensembl:ENST00000297258) - c.370A>T (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs775400916 | 126 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000008.11:g.81284535A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81284535A>G Locations: - p.Thr126Ala (Ensembl:ENST00000297258) - c.376A>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs747179299 | 126 | T>I | ExAC TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000008.11:g.81284536C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81284536C>T Locations: - p.Thr126Ile (Ensembl:ENST00000297258) - c.377C>T (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs747179299 | 126 | T>N | ExAC TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000008.11:g.81284536C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81284536C>A Locations: - p.Thr126Asn (Ensembl:ENST00000297258) - c.377C>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1420146943 | 128 | T>I | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000008.11:g.81284542C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81284542C>T Locations: - p.Thr128Ile (Ensembl:ENST00000297258) - c.383C>T (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs201701039 | 129 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - SIFT: tolerated (0.06) - PolyPhen: benign (0.345) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.81284545G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81284545G>A Locations: - p.R129Q (NCI-TCGA:ENST00000297258) - p.Arg129Gln (Ensembl:ENST00000297258) - c.386G>A (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
COSV107384421 rs1407377015 | 129 | R>W | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000008.11:g.81284544C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81284544C>T Locations: - p.Arg129Trp (Ensembl:ENST00000297258) - c.385C>T (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1442070244 | 131 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.81284551A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81284551A>G Locations: - p.Tyr131Cys (Ensembl:ENST00000297258) - c.392A>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs768747325 | 131 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.81284550T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81284550T>C Locations: - p.Tyr131His (Ensembl:ENST00000297258) - c.391T>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs776920520 | 132 | E>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.81284554A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81284554A>T Locations: - p.Glu132Val (Ensembl:ENST00000297258) - c.395A>T (Ensembl:ENST00000297258) Source type: large scale study | |||||||
rs377430148 | 133 | K>R | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000008.11:g.81284557A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81284557A>G Locations: - p.Lys133Arg (Ensembl:ENST00000297258) - c.398A>G (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
TCGA novel | 133 | K>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.95) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.81284557A>C Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81284557A>C Locations: - c.398A>C (NCI-TCGA:ENST00000297258) - p.K133T (NCI-TCGA:ENST00000297258) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1014744861 | 135 | E>Q | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000008.11:g.81284562G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81284562G>C Locations: - p.Glu135Gln (Ensembl:ENST00000297258) - c.403G>C (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
rs1807882810 | 136 | *>L | TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000008.11:g.81284566A>T Codon: TAA/TTA Consequence type: stop lost Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81284566A>T Locations: - p.Ter136LeuextTer56 (Ensembl:ENST00000297258) - c.407A>T (Ensembl:ENST00000297258) Source type: large scale study Cross-references: | |||||||
COSV51917512 | 136 | *>Y | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop lost Somatic: Yes Accession: NC_000008.11:g.81284567A>C Consequence type: stop lost Cytogenetic band: 8q21.13 Genomic location: NC_000008.11:g.81284567A>C Locations: - c.408A>C (NCI-TCGA:ENST00000297258) - p.*136Yext*56 (NCI-TCGA:ENST00000297258) Source type: large scale study Cross-references: |