P35225 · IL13_HUMAN
- ProteinInterleukin-13
- GeneIL13
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids146 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs778963746 | 2 | H>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000005.10:g.132658191A>T Codon: CAT/CTT Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658191A>T Locations: - p.His2Leu (Ensembl:ENST00000304506) - c.5A>T (Ensembl:ENST00000304506) Source type: large scale study | |||||||
COSV100449410 rs778963746 | 2 | H>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.76) Somatic: No Accession: NC_000005.10:g.132658191A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658191A>G Locations: - p.H2R (NCI-TCGA:ENST00000304506) - p.His2Arg (Ensembl:ENST00000304506) - c.5A>G (Ensembl:ENST00000304506) Source type: large scale study | |||||||
COSV100449402 rs200168712 | 3 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Likely benign (Ensembl) | NCI-TCGA Cosmic ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.5) Somatic: No Population frequencies: - MAF: 0.00004095 (gnomAD) Accession: NC_000005.10:g.132658194C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658194C>T Locations: - p.P3L (NCI-TCGA:ENST00000304506) - p.Pro3Leu (Ensembl:ENST00000304506) - c.8C>T (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs1752074244 | 3 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.87) Somatic: No Accession: NC_000005.10:g.132658193C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658193C>T Locations: - p.Pro3Ser (Ensembl:ENST00000304506) - c.7C>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1380949198 | 4 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.132658196C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658196C>T Locations: - p.Leu4Phe (Ensembl:ENST00000304506) - c.10C>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1038146791 | 6 | N>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000005.10:g.132658203A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658203A>T Locations: - p.Asn6Ile (Ensembl:ENST00000304506) - c.17A>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1038146791 | 6 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000005.10:g.132658203A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658203A>G Locations: - p.Asn6Ser (Ensembl:ENST00000304506) - c.17A>G (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs201121980 | 7 | P>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.132658206C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658206C>A Locations: - p.Pro7His (Ensembl:ENST00000304506) - c.20C>A (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs201121980 | 7 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.132658206C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658206C>G Locations: - p.Pro7Arg (Ensembl:ENST00000304506) - c.20C>G (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs771833459 | 7 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000005.10:g.132658205C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658205C>T Locations: - p.Pro7Ser (Ensembl:ENST00000304506) - c.19C>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs955794889 | 8 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.28) Somatic: No Accession: NC_000005.10:g.132658208C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658208C>G Locations: - p.Leu8Val (Ensembl:ENST00000304506) - c.22C>G (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs770488630 | 11 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000005.10:g.132658217G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658217G>T Locations: - p.Ala11Ser (Ensembl:ENST00000304506) - c.31G>T (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs1752075130 | 12 | L>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000005.10:g.132658221T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658221T>G Locations: - p.Leu12Arg (Ensembl:ENST00000304506) - c.35T>G (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs529456706 | 13 | G>A | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000005.10:g.132658224G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658224G>C Locations: - p.Gly13Ala (Ensembl:ENST00000304506) - c.38G>C (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1752075267 | 13 | G>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.132658223G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658223G>T Locations: - p.Gly13Cys (Ensembl:ENST00000304506) - c.37G>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs529456706 | 13 | G>D | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.132658224G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658224G>A Locations: - p.Gly13Asp (Ensembl:ENST00000304506) - c.38G>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs767987922 | 15 | M>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000005.10:g.132658229A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658229A>C Locations: - p.Met15Leu (Ensembl:ENST00000304506) - c.43A>C (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
COSV100449426 | 16 | A>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.132658233C>A Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658233C>A Locations: - c.47C>A (NCI-TCGA:ENST00000304506) - p.A16E (NCI-TCGA:ENST00000304506) Source type: large scale study Cross-references: | |||||||
COSV100449426 COSV58734205 rs376870298 rs376870298,COSV100449426 | 16 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000005.10:g.132658233C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658233C>T Locations: - p.A16V (NCI-TCGA:ENST00000304506) - p.Ala16Val (Ensembl:ENST00000304506) - c.47C>T (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs1198737150 | 17 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000005.10:g.132658235C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658235C>T Locations: - p.Leu17Phe (Ensembl:ENST00000304506) - c.49C>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs2149873901 | 17 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000005.10:g.132658236T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658236T>C Locations: - p.Leu17Pro (Ensembl:ENST00000304506) - c.50T>C (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs919980028 | 18 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000005.10:g.132658240G>T Codon: TTG/TTT Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658240G>T Locations: - p.Leu18Phe (Ensembl:ENST00000304506) - c.54G>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs201053365 | 19 | L>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000005.10:g.132658241T>A Codon: TTG/ATG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658241T>A Locations: - p.Leu19Met (Ensembl:ENST00000304506) - c.55T>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs2149873910 | 21 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000005.10:g.132658247A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658247A>G Locations: - p.Thr21Ala (Ensembl:ENST00000304506) - c.61A>G (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs78181870 | 21 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.2) - PolyPhen: benign (0.001) - SIFT: tolerated (0.4) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000005.10:g.132658248C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658248C>T Locations: - p.T21M (NCI-TCGA:ENST00000304506) - p.Thr21Met (Ensembl:ENST00000304506) - c.62C>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs754964536 | 22 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.132658251T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658251T>C Locations: - p.Val22Ala (Ensembl:ENST00000304506) - c.65T>C (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1752076590 | 25 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.301) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000005.10:g.132658259C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658259C>G Locations: - p.Leu25Val (Ensembl:ENST00000304506) - c.73C>G (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1752076731 | 26 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.114) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000005.10:g.132658263C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658263C>G Locations: - p.Thr26Ser (Ensembl:ENST00000304506) - c.77C>G (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1366687355 | 27 | C>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.132658266G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658266G>A Locations: - p.Cys27Tyr (Ensembl:ENST00000304506) - c.80G>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1752077921 | 29 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.576) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000005.10:g.132658271G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658271G>A Locations: - p.Gly29Ser (Ensembl:ENST00000304506) - c.85G>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
COSV105167225 rs758258492 | 30 | G>S | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.689) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000005.10:g.132658274G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658274G>A Locations: - p.Gly30Ser (Ensembl:ENST00000304506) - c.88G>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs777533503 | 31 | F>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000005.10:g.132658279T>G Codon: TTT/TTG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658279T>G Locations: - p.Phe31Leu (Ensembl:ENST00000304506) - c.93T>G (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs1752078144 | 33 | S>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.114) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.132658283T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658283T>A Locations: - p.Ser33Thr (Ensembl:ENST00000304506) - c.97T>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs2149873928 | 34 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.132658286C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658286C>G Locations: - p.Pro34Ala (Ensembl:ENST00000304506) - c.100C>G (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs746751863 | 34 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.564) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.132658287C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658287C>T Locations: - p.Pro34Leu (Ensembl:ENST00000304506) - c.101C>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1246680337 | 37 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.759) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.132658295G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658295G>A Locations: - p.Val37Met (Ensembl:ENST00000304506) - c.109G>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1752078535 | 38 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.556) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000005.10:g.132658299C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658299C>T Locations: - p.Pro38Leu (Ensembl:ENST00000304506) - c.113C>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
COSV58733930 rs1561668794 | 38 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.12) - PolyPhen: possibly damaging (0.659) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000005.10:g.132658298C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658298C>T Locations: - p.P38S (NCI-TCGA:ENST00000304506) - p.Pro38Ser (Ensembl:ENST00000304506) - c.112C>T (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs866145689 | 39 | P>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000005.10:g.132658302C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658302C>A Locations: - p.Pro39His (Ensembl:ENST00000304506) - c.116C>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs866145689 | 39 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000005.10:g.132658302C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658302C>T Locations: - p.Pro39Leu (Ensembl:ENST00000304506) - c.116C>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1315509554 | 39 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.92) Somatic: No Accession: NC_000005.10:g.132658301C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658301C>T Locations: - p.Pro39Ser (Ensembl:ENST00000304506) - c.115C>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1358582586 | 40 | S>C | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000005.10:g.132658305C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658305C>G Locations: - p.Ser40Cys (Ensembl:ENST00000304506) - c.119C>G (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs374069088 | 41 | T>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000005.10:g.132658308C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658308C>T Locations: - p.Thr41Ile (Ensembl:ENST00000304506) - c.122C>T (Ensembl:ENST00000304506) Source type: large scale study | |||||||
COSV58734335 rs374069088 | 41 | T>R | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.16) Somatic: Yes Accession: NC_000005.10:g.132658308C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658308C>G Locations: - p.Thr41Arg (Ensembl:ENST00000304506) - c.122C>G (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs200571678 | 42 | A>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.654) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000005.10:g.132658311C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658311C>A Locations: - p.Ala42Asp (Ensembl:ENST00000304506) - c.125C>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs200571678 | 42 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000005.10:g.132658311C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658311C>T Locations: - p.Ala42Val (Ensembl:ENST00000304506) - c.125C>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs879943037 | 43 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000005.10:g.132658313C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658313C>T Locations: - p.Leu43Phe (Ensembl:ENST00000304506) - c.127C>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs879943037 | 43 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.37) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.132658313C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658313C>G Locations: - p.Leu43Val (Ensembl:ENST00000304506) - c.127C>G (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
COSV100449390 | 45 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.132658319G>T Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658319G>T Locations: - c.133G>T (NCI-TCGA:ENST00000304506) - p.E45* (NCI-TCGA:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs56035208 | 45 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.132658321G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658321G>C Locations: - p.Glu45Asp (Ensembl:ENST00000304506) - c.135G>C (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1250044519 | 45 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.132658320A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658320A>G Locations: - p.Glu45Gly (Ensembl:ENST00000304506) - c.134A>G (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs947830837 | 47 | I>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.132658325A>T Codon: ATT/TTT Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658325A>T Locations: - p.Ile47Phe (Ensembl:ENST00000304506) - c.139A>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1752079545 | 47 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.132658326T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658326T>C Locations: - p.Ile47Thr (Ensembl:ENST00000304506) - c.140T>C (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1157817641 | 48 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000005.10:g.132658329A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658329A>G Locations: - p.Glu48Gly (Ensembl:ENST00000304506) - c.143A>G (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs768364050 | 49 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.132658332A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658332A>G Locations: - p.Glu49Gly (Ensembl:ENST00000304506) - c.146A>G (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs773714921 | 50 | L>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.132658334C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658334C>A Locations: - p.Leu50Met (Ensembl:ENST00000304506) - c.148C>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
COSV58734178 | 51 | V>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.45) Somatic: Yes Accession: NC_000005.10:g.132658338T>G Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658338T>G Locations: - c.152T>G (NCI-TCGA:ENST00000304506) - p.V51G (NCI-TCGA:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1162221213 | 53 | I>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.132658344T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658344T>A Locations: - p.Ile53Asn (Ensembl:ENST00000304506) - c.158T>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs903576385 | 55 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000005.10:g.132658351G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658351G>C Locations: - p.Gln55His (Ensembl:ENST00000304506) - c.165G>C (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs914913440 | 56 | N>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.861) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.132658352A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132658352A>C Locations: - p.Asn56His (Ensembl:ENST00000304506) - c.166A>C (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
COSV58734406 rs138680496 | 59 | A>V | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.21) Somatic: Yes Accession: NC_000005.10:g.132659419C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659419C>T Locations: - p.Ala59Val (Ensembl:ENST00000304506) - c.176C>T (Ensembl:ENST00000304506) Source type: large scale study | |||||||
COSV58734651 rs146770163 | 60 | P>L | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.899) - SIFT: tolerated (0.11) Somatic: Yes Accession: NC_000005.10:g.132659422C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659422C>T Locations: - p.Pro60Leu (Ensembl:ENST00000304506) - c.179C>T (Ensembl:ENST00000304506) Source type: large scale study | |||||||
TCGA novel | 60 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000005.10:g.132659421C>T Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659421C>T Locations: - c.178C>T (NCI-TCGA:ENST00000304506) - p.P60S (NCI-TCGA:ENST00000304506) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1225496288 | 61 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.132659424C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659424C>T Locations: - p.Leu61Phe (Ensembl:ENST00000304506) - c.181C>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
TCGA novel | 62 | C>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.132659428G>A Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659428G>A Locations: - c.185G>A (NCI-TCGA:ENST00000304506) - p.C62Y (NCI-TCGA:ENST00000304506) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs199869056 | 64 | G>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.643) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000005.10:g.132659433G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659433G>A Locations: - p.Gly64Ser (Ensembl:ENST00000304506) - c.190G>A (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs1049129342 | 66 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.132659439A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659439A>G Locations: - p.Met66Val (Ensembl:ENST00000304506) - c.196A>G (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1186453513 | 68 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.132659447G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659447G>A Locations: - p.Trp68Ter (Ensembl:ENST00000304506) - c.204G>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1486447016 | 68 | W>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.132659446G>T Codon: TGG/TTG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659446G>T Locations: - p.Trp68Leu (Ensembl:ENST00000304506) - c.203G>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
COSV58734160 rs143660447 | 68 | W>R | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.132659445T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659445T>C Locations: - p.Trp68Arg (Ensembl:ENST00000304506) - c.202T>C (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
COSV100449408 COSV58733882 rs1260343666 | 69 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.12) - PolyPhen: benign (0.094) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000005.10:g.132659449G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659449G>A Locations: - p.S69N (NCI-TCGA:ENST00000304506) - p.Ser69Asn (Ensembl:ENST00000304506) - c.206G>A (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs1752105152 | 69 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.132659450C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659450C>G Locations: - p.Ser69Arg (Ensembl:ENST00000304506) - c.207C>G (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1693556428 | 71 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.947) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.132659456C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659456C>A Locations: - p.Asn71Lys (Ensembl:ENST00000304506) - c.213C>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs765719901 | 71 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.859) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.132659455A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659455A>G Locations: - p.Asn71Ser (Ensembl:ENST00000304506) - c.212A>G (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs765719901 | 71 | N>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.132659455A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659455A>C Locations: - p.Asn71Thr (Ensembl:ENST00000304506) - c.212A>C (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs762983915 | 72 | L>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.71) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.132659457C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659457C>A Locations: - p.Leu72Met (Ensembl:ENST00000304506) - c.214C>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
COSV58734350 rs148077750 | 72 | L>P | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.132659458T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659458T>C Locations: - p.Leu72Pro (Ensembl:ENST00000304506) - c.215T>C (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1752105646 | 73 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.903) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.132659461C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659461C>T Locations: - p.Thr73Ile (Ensembl:ENST00000304506) - c.218C>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs200120288 | 74 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000005.10:g.132659463G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659463G>T Locations: - p.Ala74Ser (Ensembl:ENST00000304506) - c.220G>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
COSV58734236 rs200120288 | 74 | A>T | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.38) Somatic: Yes Accession: NC_000005.10:g.132659463G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659463G>A Locations: - p.Ala74Thr (Ensembl:ENST00000304506) - c.220G>A (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs751745832 | 75 | G>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.576) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.132659466G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659466G>T Locations: - p.Gly75Cys (Ensembl:ENST00000304506) - c.223G>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
COSV58734621 | 75 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.24) Somatic: Yes Accession: NC_000005.10:g.132659467G>A Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659467G>A Locations: - c.224G>A (NCI-TCGA:ENST00000304506) - p.G75D (NCI-TCGA:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs751745832 | 75 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000005.10:g.132659466G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659466G>A Locations: - p.Gly75Ser (Ensembl:ENST00000304506) - c.223G>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs2149874458 | 76 | M>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000005.10:g.132659469A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659469A>G Locations: - p.Met76Val (Ensembl:ENST00000304506) - c.226A>G (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
COSV100449417 | 77 | Y>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.132659726C>A Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659726C>A Locations: - c.231C>A (NCI-TCGA:ENST00000304506) - p.Y77* (NCI-TCGA:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs34654684 | 79 | A>E | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.639) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000005.10:g.132659731C>A Codon: GCA/GAA Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659731C>A Locations: - p.Ala79Glu (Ensembl:ENST00000304506) - c.236C>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
COSV58734075 rs1752111032 | 80 | A>T | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000005.10:g.132659733G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659733G>A Locations: - p.Ala80Thr (Ensembl:ENST00000304506) - c.238G>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs553444004 | 80 | A>V | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000005.10:g.132659734C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659734C>T Locations: - p.Ala80Val (Ensembl:ENST00000304506) - c.239C>T (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs1752111284 | 82 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000005.10:g.132659741A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659741A>C Locations: - p.Glu82Asp (Ensembl:ENST00000304506) - c.246A>C (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
TCGA novel | 84 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.132659745C>G Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659745C>G Locations: - c.250C>G (NCI-TCGA:ENST00000304506) - p.L84V (NCI-TCGA:ENST00000304506) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1554102313 | 86 | N>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.132659752A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659752A>T Locations: - p.Asn86Ile (Ensembl:ENST00000304506) - c.257A>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs199513811 | 87 | V>A | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.87) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.132659755T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659755T>C Locations: - p.Val87Ala (Ensembl:ENST00000304506) - c.260T>C (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs199513811 | 87 | V>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.132659755T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659755T>G Locations: - p.Val87Gly (Ensembl:ENST00000304506) - c.260T>G (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs778560262 | 87 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.132659754G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659754G>C Locations: - p.Val87Leu (Ensembl:ENST00000304506) - c.259G>C (Ensembl:ENST00000304506) Source type: large scale study | |||||||
COSV58733952 rs778560262 | 87 | V>M | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.132659754G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659754G>A Locations: - p.Val87Met (Ensembl:ENST00000304506) - c.259G>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1752112025 | 88 | S>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.784) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.132659758C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659758C>T Locations: - p.Ser88Leu (Ensembl:ENST00000304506) - c.263C>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1331010842 | 89 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000005.10:g.132659760G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659760G>A Locations: - p.Gly89Ser (Ensembl:ENST00000304506) - c.265G>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs777431829 | 91 | S>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.08) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000005.10:g.132659767G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659767G>C Locations: - p.Ser91Thr (Ensembl:ENST00000304506) - c.272G>C (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs746245700 | 92 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000005.10:g.132659769G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659769G>A Locations: - p.Ala92Thr (Ensembl:ENST00000304506) - c.274G>A (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs868851412 | 92 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000005.10:g.132659770C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659770C>T Locations: - p.Ala92Val (Ensembl:ENST00000304506) - c.275C>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs770108365 | 93 | I>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.132659774C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659774C>G Locations: - p.Ile93Met (Ensembl:ENST00000304506) - c.279C>G (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs1385424857 | 94 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.132659775G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659775G>A Locations: - p.Glu94Lys (Ensembl:ENST00000304506) - c.280G>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs374668631 | 96 | T>N | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.132659782C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659782C>A Locations: - p.Thr96Asn (Ensembl:ENST00000304506) - c.287C>A (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs1314934872 | 97 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000005.10:g.132659785A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659785A>G Locations: - p.Gln97Arg (Ensembl:ENST00000304506) - c.290A>G (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs749795771 | 99 | M>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000005.10:g.132659792G>A, NC_000005.10:g.132659792G>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659792G>A, NC_000005.10:g.132659792G>T Locations: - p.Met99Ile (Ensembl:ENST00000304506) - c.297G>A (Ensembl:ENST00000304506) - c.297G>T (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs200793410 | 100 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.778) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.132659793C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659793C>G Locations: - p.Leu100Val (Ensembl:ENST00000304506) - c.298C>G (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1304202143 | 101 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.76) Somatic: No Accession: NC_000005.10:g.132659797G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659797G>A Locations: - p.Ser101Asn (Ensembl:ENST00000304506) - c.302G>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs774429439 | 102 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000005.10:g.132659799G>C, NC_000005.10:g.132659799G>A Codon: GGA/CGA Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659799G>C, NC_000005.10:g.132659799G>A Locations: - p.Gly102Arg (Ensembl:ENST00000304506) - c.304G>C (Ensembl:ENST00000304506) - c.304G>A (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs201804555 | 105 | P>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000005.10:g.132659809C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659809C>T Locations: - p.Pro105Leu (Ensembl:ENST00000304506) - c.314C>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1182812263 | 106 | H>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.264) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000005.10:g.132659812A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659812A>C Locations: - p.His106Pro (Ensembl:ENST00000304506) - c.317A>C (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1752114009 | 106 | H>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000005.10:g.132659813C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659813C>G Locations: - p.His106Gln (Ensembl:ENST00000304506) - c.318C>G (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1461594059 | 106 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.357) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000005.10:g.132659811C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659811C>T Locations: - p.His106Tyr (Ensembl:ENST00000304506) - c.316C>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1160695001 | 107 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000005.10:g.132659816G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659816G>T Locations: - p.Lys107Asn (Ensembl:ENST00000304506) - c.321G>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1752114222 | 108 | V>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000005.10:g.132659818T>A Codon: GTC/GAC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659818T>A Locations: - p.Val108Asp (Ensembl:ENST00000304506) - c.323T>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1752114143 | 108 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000005.10:g.132659817G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659817G>A Locations: - p.Val108Ile (Ensembl:ENST00000304506) - c.322G>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1035512579 | 109 | S>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000005.10:g.132659821C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132659821C>T Locations: - p.Ser109Leu (Ensembl:ENST00000304506) - c.326C>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
COSV100449397 | 112 | Q>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: - Somatic: Yes Accession: NC_000005.10:g.132660177G>A Consequence type: - Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660177G>A Locations: - c.336G>A (NCI-TCGA:ENST00000304506) - p.Q112= (NCI-TCGA:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1284670898 | 112 | Q>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.275) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.132660176A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660176A>T Locations: - p.Gln112Leu (Ensembl:ENST00000304506) - c.335A>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs762414781 | 115 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000005.10:g.132660186C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660186C>G Locations: - p.Ser115Arg (Ensembl:ENST00000304506) - c.345C>G (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs184944562 | 117 | H>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.71) Somatic: No Accession: NC_000005.10:g.132660191A>T Codon: CAT/CTT Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660191A>T Locations: - p.His117Leu (Ensembl:ENST00000304506) - c.350A>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1470974621 | 117 | H>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.72) Somatic: No Accession: NC_000005.10:g.132660192T>A Codon: CAT/CAA Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660192T>A Locations: - p.His117Gln (Ensembl:ENST00000304506) - c.351T>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs184944562 | 117 | H>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.93) Somatic: No Accession: NC_000005.10:g.132660191A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660191A>G Locations: - p.His117Arg (Ensembl:ENST00000304506) - c.350A>G (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs756919832 | 119 | R>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.132660196C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660196C>T Locations: - p.Arg119Ter (Ensembl:ENST00000304506) - c.355C>T (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs140828306 | 119 | R>P | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.166) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000005.10:g.132660197G>C Codon: CGA/CCA Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660197G>C Locations: - p.Arg119Pro (Ensembl:ENST00000304506) - c.356G>C (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
COSV106094585 rs140828306 | 119 | R>Q | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: tolerated (0.34) Somatic: Yes Accession: NC_000005.10:g.132660197G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660197G>A Locations: - p.Arg119Gln (Ensembl:ENST00000304506) - c.356G>A (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs1205550748 | 121 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.132660202A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660202A>T Locations: - p.Thr121Ser (Ensembl:ENST00000304506) - c.361A>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs78628956 | 123 | I>M | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.132660210C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660210C>G Locations: - p.Ile123Met (Ensembl:ENST00000304506) - c.369C>G (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs376384925 | 123 | I>V | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.242) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000005.10:g.132660208A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660208A>G Locations: - p.Ile123Val (Ensembl:ENST00000304506) - c.367A>G (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs375653129 | 124 | E>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.132660211G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660211G>A Locations: - p.Glu124Lys (Ensembl:ENST00000304506) - c.370G>A (Ensembl:ENST00000304506) Source type: large scale study | |||||||
COSV100449368 rs777911950 | 125 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.869) - SIFT: deleterious (0.03) - PolyPhen: possibly damaging (0.881) - SIFT: deleterious (0.04) Somatic: Yes Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000005.10:g.132660215T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660215T>C Locations: - p.V125A (NCI-TCGA:ENST00000304506) - p.Val125Ala (Ensembl:ENST00000304506) - c.374T>C (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs140196099 | 125 | V>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000005.10:g.132660214G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660214G>C Locations: - p.Val125Leu (Ensembl:ENST00000304506) - c.373G>C (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs140196099 | 125 | V>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.842) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.132660214G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660214G>A Locations: - p.Val125Met (Ensembl:ENST00000304506) - c.373G>A (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs1752125049 | 126 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000005.10:g.132660218C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660218C>T Locations: - p.Ala126Val (Ensembl:ENST00000304506) - c.377C>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1752125200 | 129 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.376) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000005.10:g.132660227T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660227T>C Locations: - p.Val129Ala (Ensembl:ENST00000304506) - c.386T>C (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs200380202 | 131 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000005.10:g.132660234C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660234C>A Locations: - p.Asp131Glu (Ensembl:ENST00000304506) - c.393C>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1752125515 | 132 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.132660236T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660236T>C Locations: - p.Leu132Pro (Ensembl:ENST00000304506) - c.395T>C (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1226792469 | 133 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.132660238C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660238C>T Locations: - p.Leu133Phe (Ensembl:ENST00000304506) - c.397C>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1752125656 | 134 | L>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.132660242T>G Codon: TTA/TGA Consequence type: stop gained Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660242T>G Locations: - p.Leu134Ter (Ensembl:ENST00000304506) - c.401T>G (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs771297548 | 139 | L>P | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000005.10:g.132660257T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660257T>C Locations: - p.Leu139Pro (Ensembl:ENST00000304506) - c.416T>C (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs771297548 | 139 | L>R | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000005.10:g.132660257T>G Codon: CTT/CGT Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660257T>G Locations: - p.Leu139Arg (Ensembl:ENST00000304506) - c.416T>G (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
COSV58733981 rs201475069 | 141 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000007959 (gnomAD) Accession: NC_000005.10:g.132660262C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660262C>T Locations: - p.R141C (NCI-TCGA:ENST00000304506) - p.Arg141Cys (Ensembl:ENST00000304506) - c.421C>T (Ensembl:ENST00000304506) Source type: large scale study | |||||||
COSV58734120 rs745694958 | 141 | R>H | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000005.10:g.132660263G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660263G>A Locations: - p.Arg141His (Ensembl:ENST00000304506) - c.422G>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
COSV100449436 rs200247901 | 142 | E>D | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.42) Somatic: Yes Accession: NC_000005.10:g.132660267G>T, NC_000005.10:g.132660267G>C Codon: GAG/GAT Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660267G>T, NC_000005.10:g.132660267G>C Locations: - p.Glu142Asp (Ensembl:ENST00000304506) - c.426G>T (Ensembl:ENST00000304506) - c.426G>C (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs775360450 | 142 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000005.10:g.132660265G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660265G>A Locations: - p.Glu142Lys (Ensembl:ENST00000304506) - c.424G>A (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs775360450 | 142 | E>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000005.10:g.132660265G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660265G>C Locations: - p.Glu142Gln (Ensembl:ENST00000304506) - c.424G>C (Ensembl:ENST00000304506) Source type: large scale study | |||||||
rs1365650729 | 143 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.221) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000005.10:g.132660269G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660269G>A Locations: - p.Gly143Glu (Ensembl:ENST00000304506) - c.428G>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs1304358121 | 143 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.091) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000005.10:g.132660268G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660268G>A Locations: - p.Gly143Arg (Ensembl:ENST00000304506) - c.427G>A (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
COSV58734197 rs763882844 | 144 | Q>* | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.132660271C>T Codon: CAG/TAG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660271C>T Locations: - p.Gln144Ter (Ensembl:ENST00000304506) - c.430C>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs20541 | 144 | Q>L | Risk factor (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000005.10:g.132660272A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660272A>T Locations: - p.Gln144Leu (Ensembl:ENST00000304506) - c.431A>T (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs20541 | 144 | Q>P | Risk factor (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000005.10:g.132660272A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660272A>C Locations: - p.Gln144Pro (Ensembl:ENST00000304506) - c.431A>C (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
VAR_010037 CA124197 COSV58734609 RCV000015785 RCV002509161 RCV003974831 rs20541 | 144 | Q>R | probable protective factor against ALRH; may be associated with decreased risk for asthma development; at homozygosity may be associated with lower levels of serum total IgE in some allergic rhinitis patients (UniProt) IL13-related disorder (ClinVar) Inherited susceptibility to asthma (ClinVar) Allergic rhinitis, susceptibility to (ClinVar) | Benign (ClinVar, UniProt) | UniProt ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.26997 (ClinVar) Accession: NC_000005.10:g.132660272A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660272A>G Locations: - p.Gln144Arg (UniProt:P35225) Disease association: - Allergic rhinitis, susceptibility to - IL13-related disorder - Inherited susceptibility to asthma Source type: mixed | |||||||
rs1337202282 | 145 | F>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000005.10:g.132660275T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660275T>C Locations: - p.Phe145Ser (Ensembl:ENST00000304506) - c.434T>C (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs761274909 | 146 | N>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.335) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000005.10:g.132660277A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660277A>G Locations: - p.Asn146Asp (Ensembl:ENST00000304506) - c.436A>G (Ensembl:ENST00000304506) Source type: large scale study Cross-references: | |||||||
rs56258826 | 146 | N>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.132660278A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 5q31.1 Genomic location: NC_000005.10:g.132660278A>C Locations: - p.Asn146Thr (Ensembl:ENST00000304506) - c.437A>C (Ensembl:ENST00000304506) Source type: large scale study Cross-references: |