P61225 · RAP2B_HUMAN
- ProteinRas-related protein Rap-2b
- GeneRAP2B
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids183 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
TCGA novel | 2 | R>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.442) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000003.12:g.153162698G>C Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162698G>C Locations: - c.5G>C (NCI-TCGA:ENST00000323534) - p.R2T (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs770459185 | 8 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.153162715G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162715G>A Locations: - p.Val8Met (Ensembl:ENST00000323534) - c.22G>A (Ensembl:ENST00000323534) Source type: large scale study | |||||||
rs1296835016 | 10 | G>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.153162721G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162721G>T Locations: - p.Gly10Cys (Ensembl:ENST00000323534) - c.28G>T (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
COSV60256680 | 12 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000003.12:g.153162727G>A Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162727G>A Locations: - c.34G>A (NCI-TCGA:ENST00000323534) - p.G12S (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs759859100 | 22 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.153162757C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162757C>T Locations: - p.Gln22Ter (Ensembl:ENST00000323534) - c.64C>T (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs925245981 | 22 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.771) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.153162758A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162758A>G Locations: - p.Gln22Arg (Ensembl:ENST00000323534) - c.65A>G (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1031080041 | 23 | F>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.744) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.153162762C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162762C>G Locations: - p.Phe23Leu (Ensembl:ENST00000323534) - c.69C>G (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1713446036 | 25 | T>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.153162767C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162767C>T Locations: - p.Thr25Met (Ensembl:ENST00000323534) - c.74C>T (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs200413181 | 26 | G>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.886) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.153162769G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162769G>A Locations: - p.Gly26Ser (Ensembl:ENST00000323534) - c.76G>A (Ensembl:ENST00000323534) Source type: large scale study | |||||||
COSV60257133 | 29 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000003.12:g.153162778A>G Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162778A>G Locations: - c.85A>G (NCI-TCGA:ENST00000323534) - p.I29V (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: | |||||||
TCGA novel | 30 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000003.12:g.153162783G>T Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162783G>T Locations: - c.90G>T (NCI-TCGA:ENST00000323534) - p.E30D (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2108014912 | 31 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000003.12:g.153162785A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162785A>G Locations: - p.Lys31Arg (Ensembl:ENST00000323534) - c.92A>G (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1713446559 | 33 | D>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.153162791A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162791A>T Locations: - p.Asp33Val (Ensembl:ENST00000323534) - c.98A>T (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs553821688 | 33 | D>Y | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.153162790G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162790G>T Locations: - p.Asp33Tyr (Ensembl:ENST00000323534) - c.97G>T (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
TCGA novel | 34 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000003.12:g.153162794C>T Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162794C>T Locations: - c.101C>T (NCI-TCGA:ENST00000323534) - p.P34L (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1713446813 | 37 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.153162802G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162802G>A Locations: - p.Glu37Lys (Ensembl:ENST00000323534) - c.109G>A (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
TCGA novel | 38 | D>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_000003.12:g.153162805G>T Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162805G>T Locations: - c.112G>T (NCI-TCGA:ENST00000323534) - p.D38Y (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 39 | F>L | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000003.12:g.153162808_153162809del Consequence type: frameshift Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162808_153162809del Locations: - c.117_118del (NCI-TCGA:ENST00000323534) - p.F39Lfs*6 (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 40 | Y>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000003.12:g.153162811T>C Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162811T>C Locations: - c.118T>C (NCI-TCGA:ENST00000323534) - p.Y40H (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV60256943 | 42 | K>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000003.12:g.153162817A>G Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162817A>G Locations: - c.124A>G (NCI-TCGA:ENST00000323534) - p.K42E (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs749886827 | 43 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.153162822G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162822G>T Locations: - p.Glu43Asp (Ensembl:ENST00000323534) - c.129G>T (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs757848716 | 44 | I>T | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.153162824T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162824T>C Locations: - p.Ile44Thr (Ensembl:ENST00000323534) - c.131T>C (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
COSV100059188 | 45 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.888) - SIFT: tolerated (0.13) Somatic: Yes Accession: NC_000003.12:g.153162826G>A Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162826G>A Locations: - c.133G>A (NCI-TCGA:ENST00000323534) - p.E45K (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1713447292 | 46 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.153162830T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162830T>C Locations: - p.Val46Ala (Ensembl:ENST00000323534) - c.137T>C (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
TCGA novel | 49 | S>missing | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: inframe deletion Somatic: No Accession: NC_000003.12:g.153162835_153162837del Consequence type: inframe deletion Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162835_153162837del Locations: - c.145_147del (NCI-TCGA:ENST00000323534) - p.S49del (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs751151870 | 50 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.153162842C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162842C>T Locations: - p.Pro50Leu (Ensembl:ENST00000323534) - c.149C>T (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
COSV60257412 | 51 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000003.12:g.153162845C>T Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162845C>T Locations: - c.152C>T (NCI-TCGA:ENST00000323534) - p.S51L (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1276738456 | 52 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.08) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.153162847G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162847G>T Locations: - p.Val52Leu (Ensembl:ENST00000323534) - c.154G>T (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
COSV100058958 | 55 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000003.12:g.153162856A>G Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162856A>G Locations: - c.163A>G (NCI-TCGA:ENST00000323534) - p.I55V (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: | |||||||
TCGA novel | 57 | D>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_000003.12:g.153162862G>T Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162862G>T Locations: - c.169G>T (NCI-TCGA:ENST00000323534) - p.D57Y (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1466526031 | 63 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.802) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.153162882G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162882G>T Locations: - p.Gln63His (Ensembl:ENST00000323534) - c.189G>T (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
COSV60257125 | 67 | M>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000003.12:g.153162893T>C Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162893T>C Locations: - c.200T>C (NCI-TCGA:ENST00000323534) - p.M67T (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1404236962 | 68 | R>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.699) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.153162896G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162896G>A Locations: - p.Arg68Gln (Ensembl:ENST00000323534) - c.203G>A (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
COSV100058876 | 71 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000003.12:g.153162905A>G Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162905A>G Locations: - c.212A>G (NCI-TCGA:ENST00000323534) - p.Y71C (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: | |||||||
COSV100059201 | 71 | Y>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000003.12:g.153162904T>A Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162904T>A Locations: - c.211T>A (NCI-TCGA:ENST00000323534) - p.Y71N (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1297718340 | 72 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.741) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.153162907A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162907A>G Locations: - p.Ile72Val (Ensembl:ENST00000323534) - c.214A>G (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1713449028 | 76 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.153162919C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162919C>T Locations: - p.Gln76Ter (Ensembl:ENST00000323534) - c.226C>T (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs774537575 | 79 | I>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000003.12:g.153162928A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162928A>C Locations: - p.Ile79Leu (Ensembl:ENST00000323534) - c.235A>C (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1260826767 | 79 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.153162930C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162930C>G Locations: - p.Ile79Met (Ensembl:ENST00000323534) - c.237C>G (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1475060345 | 81 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.153162935T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162935T>C Locations: - p.Val81Ala (Ensembl:ENST00000323534) - c.242T>C (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1713449406 | 81 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.153162934G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162934G>C Locations: - p.Val81Leu (Ensembl:ENST00000323534) - c.241G>C (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
COSV60256778 COSV60256778,COSV60257178 COSV60257178 rs1713449829 | 82 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000003.12:g.153162938A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162938A>G Locations: - p.Y82C (NCI-TCGA:ENST00000323534) - p.Tyr82Cys (Ensembl:ENST00000323534) - c.245A>G (Ensembl:ENST00000323534) Source type: large scale study | |||||||
rs1713449904 | 83 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.153162940A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162940A>T Locations: - p.Ser83Cys (Ensembl:ENST00000323534) - c.247A>T (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1713450166 | 85 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000003.12:g.153162946G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162946G>A Locations: - p.Val85Ile (Ensembl:ENST00000323534) - c.253G>A (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs761606129 | 87 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000003.12:g.153162954G>T, NC_000003.12:g.153162954G>C Codon: CAG/CAT Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162954G>T, NC_000003.12:g.153162954G>C Locations: - p.Gln87His (Ensembl:ENST00000323534) - c.261G>T (Ensembl:ENST00000323534) - c.261G>C (Ensembl:ENST00000323534) Source type: large scale study | |||||||
rs1713451915 | 89 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.292) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000003.12:g.153162959G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162959G>A Locations: - p.Ser89Asn (Ensembl:ENST00000323534) - c.266G>A (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1199187879 | 97 | R>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.858) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.153162983G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162983G>A Locations: - p.Arg97Gln (Ensembl:ENST00000323534) - c.290G>A (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1713452383 | 98 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.829) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000003.12:g.153162985G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162985G>A Locations: - p.Asp98Asn (Ensembl:ENST00000323534) - c.292G>A (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
COSV60257513 | 99 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000003.12:g.153162988C>T Consequence type: stop gained Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162988C>T Locations: - c.295C>T (NCI-TCGA:ENST00000323534) - p.Q99* (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1386273660 | 100 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.153162993C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162993C>G Locations: - p.Ile100Met (Ensembl:ENST00000323534) - c.300C>G (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs765777605 | 101 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.56) Somatic: No Accession: NC_000003.12:g.153162994A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153162994A>G Locations: - p.Ile101Val (Ensembl:ENST00000323534) - c.301A>G (Ensembl:ENST00000323534) Source type: large scale study | |||||||
rs1004414038 | 103 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.153163000G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163000G>T Locations: - p.Val103Leu (Ensembl:ENST00000323534) - c.307G>T (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1713452876 | 106 | Y>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.27) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000003.12:g.153163009T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163009T>A Locations: - p.Tyr106Asn (Ensembl:ENST00000323534) - c.316T>A (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1713452970 | 107 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.42) Somatic: No Accession: NC_000003.12:g.153163014G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163014G>T Locations: - p.Glu107Asp (Ensembl:ENST00000323534) - c.321G>T (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1344681735 | 108 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.437) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.153163016G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163016G>A Locations: - p.Arg108His (Ensembl:ENST00000323534) - c.323G>A (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs781006684 | 109 | V>L | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.187) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.153163018G>T, NC_000003.12:g.153163018G>C Codon: GTG/TTG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163018G>T, NC_000003.12:g.153163018G>C Locations: - p.Val109Leu (Ensembl:ENST00000323534) - c.325G>T (Ensembl:ENST00000323534) - c.325G>C (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
TCGA novel | 110 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.562) - SIFT: deleterious (0) Somatic: No Accession: NC_000003.12:g.153163022C>T Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163022C>T Locations: - c.329C>T (NCI-TCGA:ENST00000323534) - p.P110L (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1713453521 | 111 | M>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.153163025T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163025T>A Locations: - p.Met111Lys (Ensembl:ENST00000323534) - c.332T>A (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1341094118 | 111 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated - low confidence (0.55) Somatic: No Accession: NC_000003.12:g.153163024A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163024A>G Locations: - p.Met111Val (Ensembl:ENST00000323534) - c.331A>G (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
COSV100058970 | 116 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000003.12:g.153163040A>G Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163040A>G Locations: - c.347A>G (NCI-TCGA:ENST00000323534) - p.N116S (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs145042481 | 119 | D>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.153163049A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163049A>C Locations: - p.Asp119Ala (Ensembl:ENST00000323534) - c.356A>C (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
COSV100059183 | 119 | D>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000003.12:g.153163049A>G Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163049A>G Locations: - c.356A>G (NCI-TCGA:ENST00000323534) - p.D119G (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1223747173 | 121 | E>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.568) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.153163055A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163055A>C Locations: - p.Glu121Ala (Ensembl:ENST00000323534) - c.362A>C (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs778259301 | 121 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000003.12:g.153163054G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163054G>A Locations: - p.Glu121Lys (Ensembl:ENST00000323534) - c.361G>A (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
COSV100059179 | 121 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000003.12:g.153163054G>C Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163054G>C Locations: - c.361G>C (NCI-TCGA:ENST00000323534) - p.E121Q (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs367914724 | 122 | G>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.097) - SIFT: tolerated - low confidence (0.37) Somatic: No Accession: NC_000003.12:g.153163057G>C Codon: GGT/CGT Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163057G>C Locations: - p.Gly122Arg (Ensembl:ENST00000323534) - c.364G>C (Ensembl:ENST00000323534) Source type: large scale study | |||||||
rs1314595126 | 125 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.153163068G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163068G>T Locations: - p.Glu125Asp (Ensembl:ENST00000323534) - c.375G>T (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
COSV60257522 | 125 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.813) - SIFT: tolerated (0.63) Somatic: Yes Accession: NC_000003.12:g.153163066G>A Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163066G>A Locations: - c.373G>A (NCI-TCGA:ENST00000323534) - p.E125K (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs752933416 | 127 | S>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000003.12:g.153163073C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163073C>T Locations: - p.Ser127Leu (Ensembl:ENST00000323534) - c.380C>T (Ensembl:ENST00000323534) Source type: large scale study | |||||||
rs142028404 | 128 | Y>* | ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.153163077C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163077C>G Locations: - p.Tyr128Ter (Ensembl:ENST00000323534) - c.384C>G (Ensembl:ENST00000323534) Source type: large scale study | |||||||
rs565462206 | 128 | Y>H | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.172) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000003.12:g.153163075T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163075T>C Locations: - p.Tyr128His (Ensembl:ENST00000323534) - c.382T>C (Ensembl:ENST00000323534) Source type: large scale study | |||||||
rs375000031 | 129 | G>E | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000003.12:g.153163079G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163079G>A Locations: - p.Gly129Glu (Ensembl:ENST00000323534) - c.386G>A (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs747295383 | 129 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.148) - SIFT: tolerated - low confidence (0.39) Somatic: No Accession: NC_000003.12:g.153163078G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163078G>A Locations: - p.Gly129Arg (Ensembl:ENST00000323534) - c.385G>A (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs769460665 | 130 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000003.12:g.153163083G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163083G>C Locations: - p.Glu130Asp (Ensembl:ENST00000323534) - c.390G>C (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs773102295 | 132 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000003.12:g.153163088A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163088A>G Locations: - p.Lys132Arg (Ensembl:ENST00000323534) - c.395A>G (Ensembl:ENST00000323534) Source type: large scale study | |||||||
rs762761720 | 133 | A>S | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000003.12:g.153163090G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163090G>T Locations: - p.Ala133Ser (Ensembl:ENST00000323534) - c.397G>T (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs762761720 | 133 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.44) - PolyPhen: benign (0.014) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000003.12:g.153163090G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163090G>A Locations: - p.A133T (NCI-TCGA:ENST00000323534) - p.Ala133Thr (Ensembl:ENST00000323534) - c.397G>A (Ensembl:ENST00000323534) Source type: large scale study | |||||||
rs766367034 | 134 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.835) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.153163093C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163093C>G Locations: - p.Leu134Val (Ensembl:ENST00000323534) - c.400C>G (Ensembl:ENST00000323534) Source type: large scale study | |||||||
rs1713455804 | 135 | A>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.892) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.153163097C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163097C>A Locations: - p.Ala135Asp (Ensembl:ENST00000323534) - c.404C>A (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1576680885 | 136 | E>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.153163099G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163099G>T Locations: - p.Glu136Ter (Ensembl:ENST00000323534) - c.406G>T (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
COSV100058933 | 136 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.15) Somatic: Yes Accession: NC_000003.12:g.153163101G>T Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163101G>T Locations: - c.408G>T (NCI-TCGA:ENST00000323534) - p.E136D (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1713455987 | 137 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000003.12:g.153163104G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163104G>T Locations: - p.Glu137Asp (Ensembl:ENST00000323534) - c.411G>T (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
TCGA novel | 138 | W>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000003.12:g.153163106G>T Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163106G>T Locations: - c.413G>T (NCI-TCGA:ENST00000323534) - p.W138L (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1161411358 | 139 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.624) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.153163108A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163108A>T Locations: - p.Ser139Cys (Ensembl:ENST00000323534) - c.415A>T (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs773680657 | 139 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.083) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000003.12:g.153163110C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163110C>G Locations: - p.Ser139Arg (Ensembl:ENST00000323534) - c.417C>G (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1576680889 | 139 | S>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.153163109G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163109G>C Locations: - p.Ser139Thr (Ensembl:ENST00000323534) - c.416G>C (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs759122379 | 141 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000003.12:g.153163114C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163114C>G Locations: - p.Pro141Ala (Ensembl:ENST00000323534) - c.421C>G (Ensembl:ENST00000323534) Source type: large scale study | |||||||
rs1713456375 | 141 | P>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.153163115C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163115C>G Locations: - p.Pro141Arg (Ensembl:ENST00000323534) - c.422C>G (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs759122379 | 141 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.642) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000003.12:g.153163114C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163114C>T Locations: - p.Pro141Ser (Ensembl:ENST00000323534) - c.421C>T (Ensembl:ENST00000323534) Source type: large scale study | |||||||
rs759122379 | 141 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.892) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000003.12:g.153163114C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163114C>A Locations: - p.Pro141Thr (Ensembl:ENST00000323534) - c.421C>A (Ensembl:ENST00000323534) Source type: large scale study | |||||||
rs755881501 | 143 | M>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.45) Somatic: No Accession: NC_000003.12:g.153163120A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163120A>T Locations: - p.Met143Leu (Ensembl:ENST00000323534) - c.427A>T (Ensembl:ENST00000323534) Source type: large scale study | |||||||
rs1278559752 | 145 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.769) - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000003.12:g.153163126A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163126A>G Locations: - p.Thr145Ala (Ensembl:ENST00000323534) - c.433A>G (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
TCGA novel | 149-160 | NK>missing | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: inframe deletion Somatic: No Accession: NC_000003.12:g.153163138_153163173del Consequence type: inframe deletion Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163138_153163173del Locations: - c.445_480del (NCI-TCGA:ENST00000323534) - p.N149_I160del (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1307104437 | 150 | K>R | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000003.12:g.153163142A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163142A>G Locations: - p.Lys150Arg (Ensembl:ENST00000323534) - c.449A>G (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1713457153 | 151 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.075) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000003.12:g.153163144G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163144G>C Locations: - p.Ala151Pro (Ensembl:ENST00000323534) - c.451G>C (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1222393589 | 152 | S>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000003.12:g.153163148C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163148C>T Locations: - p.Ser152Leu (Ensembl:ENST00000323534) - c.455C>T (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1713457541 | 153 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.153163150G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163150G>A Locations: - p.Val153Ile (Ensembl:ENST00000323534) - c.457G>A (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1713457707 | 155 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.783) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.153163157A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163157A>G Locations: - p.Glu155Gly (Ensembl:ENST00000323534) - c.464A>G (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs745877514 | 156 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.075) - SIFT: tolerated - low confidence (0.53) Somatic: No Accession: NC_000003.12:g.153163159C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163159C>G Locations: - p.Leu156Val (Ensembl:ENST00000323534) - c.466C>G (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1232473528 | 161 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.153163174G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163174G>A Locations: - p.Val161Met (Ensembl:ENST00000323534) - c.481G>A (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs867648017 | 162 | R>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.153163178G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163178G>T Locations: - p.Arg162Leu (Ensembl:ENST00000323534) - c.485G>T (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
TCGA novel | 163 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.153163180C>T Consequence type: stop gained Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163180C>T Locations: - c.487C>T (NCI-TCGA:ENST00000323534) - p.Q163* (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs758465665 | 163 | Q>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.153163181A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163181A>C Locations: - p.Gln163Pro (Ensembl:ENST00000323534) - c.488A>C (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs544792799 | 164 | M>R | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.153163184T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163184T>G Locations: - p.Met164Arg (Ensembl:ENST00000323534) - c.491T>G (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1161577346 | 166 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000003.12:g.153163189T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163189T>C Locations: - p.Tyr166His (Ensembl:ENST00000323534) - c.496T>C (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs143077735 | 168 | A>S | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000003.12:g.153163195G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163195G>T Locations: - p.Ala168Ser (Ensembl:ENST00000323534) - c.502G>T (Ensembl:ENST00000323534) Source type: large scale study | |||||||
COSV100058846 | 168 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.68) Somatic: Yes Accession: NC_000003.12:g.153163195G>A Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163195G>A Locations: - c.502G>A (NCI-TCGA:ENST00000323534) - p.A168T (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1327964672 | 168 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000003.12:g.153163196C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163196C>T Locations: - p.Ala168Val (Ensembl:ENST00000323534) - c.503C>T (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
COSV100058819 | 169 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.133) - SIFT: tolerated (0.11) Somatic: Yes Accession: NC_000003.12:g.153163200G>T Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163200G>T Locations: - c.507G>T (NCI-TCGA:ENST00000323534) - p.Q169H (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1443931485 | 170 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.68) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000003.12:g.153163202C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163202C>G Locations: - p.Pro170Arg (Ensembl:ENST00000323534) - c.509C>G (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs768955594 | 170 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000003.12:g.153163201C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163201C>T Locations: - p.Pro170Ser (Ensembl:ENST00000323534) - c.508C>T (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1713458702 | 171 | N>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.89) Somatic: No Accession: NC_000003.12:g.153163204A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163204A>G Locations: - p.Asn171Asp (Ensembl:ENST00000323534) - c.511A>G (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1331699778 | 171 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.45) Somatic: No Accession: NC_000003.12:g.153163205A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163205A>G Locations: - p.Asn171Ser (Ensembl:ENST00000323534) - c.512A>G (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1713459113 | 172 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000003.12:g.153163208G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163208G>A Locations: - p.Gly172Asp (Ensembl:ENST00000323534) - c.515G>A (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1381383941 | 172 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000003.12:g.153163207G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163207G>A Locations: - p.Gly172Ser (Ensembl:ENST00000323534) - c.514G>A (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1713459355 | 173 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000003.12:g.153163211A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163211A>G Locations: - p.Asp173Gly (Ensembl:ENST00000323534) - c.518A>G (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1243203862 | 173 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000003.12:g.153163210G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163210G>A Locations: - p.Asp173Asn (Ensembl:ENST00000323534) - c.517G>A (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1313516978 | 174 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000003.12:g.153163215G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163215G>C Locations: - p.Glu174Asp (Ensembl:ENST00000323534) - c.522G>C (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1713459430 | 174 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.51) Somatic: No Accession: NC_000003.12:g.153163213G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163213G>A Locations: - p.Glu174Lys (Ensembl:ENST00000323534) - c.520G>A (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1374763118 | 174 | E>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.153163214A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163214A>T Locations: - p.Glu174Val (Ensembl:ENST00000323534) - c.521A>T (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1359111027 | 175 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.64) Somatic: No Accession: NC_000003.12:g.153163217G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163217G>A Locations: - p.Gly175Asp (Ensembl:ENST00000323534) - c.524G>A (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
TCGA novel | 176 | C>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000003.12:g.153163219T>C Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163219T>C Locations: - c.526T>C (NCI-TCGA:ENST00000323534) - p.C176R (NCI-TCGA:ENST00000323534) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1713459723 | 177 | C>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.153163222T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163222T>C Locations: - p.Cys177Arg (Ensembl:ENST00000323534) - c.529T>C (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1272755154 | 178 | S>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000003.12:g.153163226C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163226C>T Locations: - p.Ser178Leu (Ensembl:ENST00000323534) - c.533C>T (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1229196205 | 178 | S>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000003.12:g.153163225T>C Codon: TCG/CCG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163225T>C Locations: - p.Ser178Pro (Ensembl:ENST00000323534) - c.532T>C (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs749125456 | 179 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.67) Somatic: No Accession: NC_000003.12:g.153163228G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163228G>T Locations: - p.Ala179Ser (Ensembl:ENST00000323534) - c.535G>T (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs749125456 | 179 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.67) Somatic: No Accession: NC_000003.12:g.153163228G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163228G>A Locations: - p.Ala179Thr (Ensembl:ENST00000323534) - c.535G>A (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1460906419 | 180 | C>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.153163233C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163233C>A Locations: - p.Cys180Ter (Ensembl:ENST00000323534) - c.540C>A (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1244847664 | 181 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated - low confidence (0.63) Somatic: No Accession: NC_000003.12:g.153163235T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163235T>C Locations: - p.Val181Ala (Ensembl:ENST00000323534) - c.542T>C (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1244847664 | 181 | V>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000003.12:g.153163235T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163235T>A Locations: - p.Val181Glu (Ensembl:ENST00000323534) - c.542T>A (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1181863173 | 181 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.198) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000003.12:g.153163234G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163234G>A Locations: - p.Val181Met (Ensembl:ENST00000323534) - c.541G>A (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1713460594 | 183 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.153163240C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163240C>T Locations: - p.Leu183Phe (Ensembl:ENST00000323534) - c.547C>T (Ensembl:ENST00000323534) Source type: large scale study Cross-references: | |||||||
rs1167041699 | 183 | L>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.074) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.153163241T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: 3q25.2 Genomic location: NC_000003.12:g.153163241T>A Locations: - p.Leu183His (Ensembl:ENST00000323534) - c.548T>A (Ensembl:ENST00000323534) Source type: large scale study Cross-references: |