H3BPD9 · H3BPD9_HUMAN
- Proteinnucleoside-diphosphate kinase
- GeneNME3
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs959414746 | 1 | F>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771510A>C Codon: TTC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771510A>C Locations: - p.Phe1Val (Ensembl:ENST00000568561) - c.1T>G (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs779333710 | 2 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.1771507C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771507C>G Locations: - p.Ala2Pro (Ensembl:ENST00000568561) - c.4G>C (Ensembl:ENST00000568561) Source type: large scale study | |||||||
rs1391286075 | 2 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771506G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771506G>A Locations: - p.Ala2Val (Ensembl:ENST00000568561) - c.5C>T (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs539076231 | 4 | L>F | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.242) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000016.10:g.1771501G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771501G>A Locations: - p.Leu4Phe (Ensembl:ENST00000568561) - c.10C>T (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs1247153655 | 4 | L>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.304) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.1771500A>C Codon: CTC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771500A>C Locations: - p.Leu4Arg (Ensembl:ENST00000568561) - c.11T>G (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs539076231 | 4 | L>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000016.10:g.1771501G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771501G>C Locations: - p.Leu4Val (Ensembl:ENST00000568561) - c.10C>G (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs961990084 | 6 | P>A | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000016.10:g.1771495G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771495G>C Locations: - p.Pro6Ala (Ensembl:ENST00000568561) - c.16C>G (Ensembl:ENST00000568561) Source type: large scale study | |||||||
rs1233478290 | 6 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.1771494G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771494G>A Locations: - p.Pro6Leu (Ensembl:ENST00000568561) - c.17C>T (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs1233478290 | 6 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.089) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000016.10:g.1771494G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771494G>C Locations: - p.Pro6Arg (Ensembl:ENST00000568561) - c.17C>G (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs961990084 | 6 | P>S | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000016.10:g.1771495G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771495G>A Locations: - p.Pro6Ser (Ensembl:ENST00000568561) - c.16C>T (Ensembl:ENST00000568561) Source type: large scale study | |||||||
rs961990084 | 6 | P>T | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000016.10:g.1771495G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771495G>T Locations: - p.Pro6Thr (Ensembl:ENST00000568561) - c.16C>A (Ensembl:ENST00000568561) Source type: large scale study | |||||||
rs2042602472 | 7 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.49) Somatic: No Accession: NC_000016.10:g.1771492C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771492C>T Locations: - p.Ala7Thr (Ensembl:ENST00000568561) - c.19G>A (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs2042602423 | 7 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000016.10:g.1771491G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771491G>A Locations: - p.Ala7Val (Ensembl:ENST00000568561) - c.20C>T (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs1311110461 | 8 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.61) Somatic: No Accession: NC_000016.10:g.1771410G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771410G>C Locations: - p.Ala8Gly (Ensembl:ENST00000568561) - c.23C>G (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
TCGA novel rs2042602323 | 8 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000016.10:g.1771489C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771489C>T Locations: - p.A8T (NCI-TCGA:ENST00000568561) - p.Ala8Thr (Ensembl:ENST00000568561) - c.22G>A (Ensembl:ENST00000568561) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs77638350 | 10 | T>A | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000016.10:g.1771405T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771405T>C Locations: - p.Thr10Ala (Ensembl:ENST00000568561) - c.28A>G (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs1169935082 | 10 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.1771404G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771404G>A Locations: - p.Thr10Ile (Ensembl:ENST00000568561) - c.29C>T (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs77638350 | 10 | T>P | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000016.10:g.1771405T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771405T>G Locations: - p.Thr10Pro (Ensembl:ENST00000568561) - c.28A>C (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs1169935082 | 10 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000016.10:g.1771404G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771404G>C Locations: - p.Thr10Ser (Ensembl:ENST00000568561) - c.29C>G (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs77638350 | 10 | T>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000016.10:g.1771405T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771405T>A Locations: - p.Thr10Ser (Ensembl:ENST00000568561) - c.28A>T (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs2042598541 | 11 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.1771401C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771401C>T Locations: - p.Gly11Asp (Ensembl:ENST00000568561) - c.32G>A (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs1463272192 | 11 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.245) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000016.10:g.1771402C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771402C>T Locations: - p.Gly11Ser (Ensembl:ENST00000568561) - c.31G>A (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs549597412 | 12 | A>T | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000016.10:g.1771399C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771399C>T Locations: - p.Ala12Thr (Ensembl:ENST00000568561) - c.34G>A (Ensembl:ENST00000568561) Source type: large scale study | |||||||
rs1042287901 | 13 | H>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.1771396G>C Codon: CAC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771396G>C Locations: - p.His13Asp (Ensembl:ENST00000568561) - c.37C>G (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs1042287901 | 13 | H>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.1771396G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771396G>T Locations: - p.His13Asn (Ensembl:ENST00000568561) - c.37C>A (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs752689169 | 15 | R>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.1771390G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771390G>A Locations: - p.Arg15Cys (Ensembl:ENST00000568561) - c.43C>T (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs752689169 | 15 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771390G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771390G>C Locations: - p.Arg15Gly (Ensembl:ENST00000568561) - c.43C>G (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs1009508313 | 15 | R>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.1771389C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771389C>A Locations: - p.Arg15Leu (Ensembl:ENST00000568561) - c.44G>T (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs1259585312 | 16 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.582) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771387T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771387T>C Locations: - p.Thr16Ala (Ensembl:ENST00000568561) - c.46A>G (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs1273184041 | 20 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.52) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771375C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771375C>T Locations: - p.Val20Met (Ensembl:ENST00000568561) - c.58G>A (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs766550646 | 21 | K>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771371T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771371T>A Locations: - p.Lys21Met (Ensembl:ENST00000568561) - c.62A>T (Ensembl:ENST00000568561) Source type: large scale study | |||||||
rs766550646 | 21 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771371T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771371T>C Locations: - p.Lys21Arg (Ensembl:ENST00000568561) - c.62A>G (Ensembl:ENST00000568561) Source type: large scale study | |||||||
rs766550646 | 21 | K>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771371T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771371T>G Locations: - p.Lys21Thr (Ensembl:ENST00000568561) - c.62A>C (Ensembl:ENST00000568561) Source type: large scale study | |||||||
rs760947468 | 22 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771368G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771368G>A Locations: - p.Pro22Leu (Ensembl:ENST00000568561) - c.65C>T (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs760947468 | 22 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771368G>C Codon: CCG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771368G>C Locations: - p.Pro22Arg (Ensembl:ENST00000568561) - c.65C>G (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs1193189912 | 23 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771364G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771364G>C Locations: - p.Asp23Glu (Ensembl:ENST00000568561) - c.69C>G (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs369631134 | 24 | G>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771363C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771363C>G Locations: - p.Gly24Arg (Ensembl:ENST00000568561) - c.70G>C (Ensembl:ENST00000568561) Source type: large scale study | |||||||
rs369631134 | 24 | G>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771363C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771363C>T Locations: - p.Gly24Ser (Ensembl:ENST00000568561) - c.70G>A (Ensembl:ENST00000568561) Source type: large scale study | |||||||
rs772500331 | 25 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771360C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771360C>T Locations: - p.Val25Met (Ensembl:ENST00000568561) - c.73G>A (Ensembl:ENST00000568561) Source type: large scale study | |||||||
rs1271151744 | 26 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.1771357G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771357G>A Locations: - p.Gln26Ter (Ensembl:ENST00000568561) - c.76C>T (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs376657007 | 27 | R>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771354G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771354G>C Locations: - p.Arg27Gly (Ensembl:ENST00000568561) - c.79C>G (Ensembl:ENST00000568561) Source type: large scale study | |||||||
rs774870172 | 27 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771353C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771353C>T Locations: - p.Arg27Gln (Ensembl:ENST00000568561) - c.80G>A (Ensembl:ENST00000568561) Source type: large scale study | |||||||
rs376657007 | 27 | R>W | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.1771354G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771354G>A Locations: - p.Arg27Trp (Ensembl:ENST00000568561) - c.79C>T (Ensembl:ENST00000568561) Source type: large scale study | |||||||
rs1336435090 | 28 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000016.10:g.1771351G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771351G>C Locations: - p.Arg28Gly (Ensembl:ENST00000568561) - c.82C>G (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs1331071135 | 28 | R>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.756) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771350C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771350C>G Locations: - p.Arg28Pro (Ensembl:ENST00000568561) - c.83G>C (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs1331071135 | 28 | R>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.434) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000016.10:g.1771350C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771350C>T Locations: - p.Arg28Gln (Ensembl:ENST00000568561) - c.83G>A (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs1336435090 | 28 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771351G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771351G>A Locations: - p.Arg28Trp (Ensembl:ENST00000568561) - c.82C>T (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs981893786 | 29 | L>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.1771348G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771348G>T Locations: - p.Leu29Met (Ensembl:ENST00000568561) - c.85C>A (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs745428386 | 30 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.349) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771344A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771344A>G Locations: - p.Val30Ala (Ensembl:ENST00000568561) - c.89T>C (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs745428386 | 30 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.843) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771344A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771344A>C Locations: - p.Val30Gly (Ensembl:ENST00000568561) - c.89T>G (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs769102029 | 30 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.1771345C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771345C>A Locations: - p.Val30Leu (Ensembl:ENST00000568561) - c.88G>T (Ensembl:ENST00000568561) Source type: large scale study | |||||||
rs769102029 | 30 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.739) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771345C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771345C>T Locations: - p.Val30Met (Ensembl:ENST00000568561) - c.88G>A (Ensembl:ENST00000568561) Source type: large scale study | |||||||
rs2141975612 | 32 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000016.10:g.1771337C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771337C>G Locations: - p.Glu32Asp (Ensembl:ENST00000568561) - c.96G>C (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs746657401 | 33 | I>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.1771334A>C Codon: ATT/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771334A>C Locations: - p.Ile33Met (Ensembl:ENST00000568561) - c.99T>G (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs2042596478 | 34 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000016.10:g.1771333C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771333C>G Locations: - p.Val34Leu (Ensembl:ENST00000568561) - c.100G>C (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs1472143089 | 35 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000016.10:g.1771329C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771329C>T Locations: - p.Arg35Gln (Ensembl:ENST00000568561) - c.104G>A (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
RCV000965315 rs201012343 | 35 | R>W | Benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00359 (ClinVar) Accession: NC_000016.10:g.1771330G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771330G>A Locations: - p.Arg35Trp (Ensembl:ENST00000568561) - c.103C>T (Ensembl:ENST00000568561) Source type: large scale study | |||||||
rs1232972529 | 36 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771327G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771327G>A Locations: - p.Arg36Cys (Ensembl:ENST00000568561) - c.106C>T (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs1183483784 | 36 | R>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771326C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771326C>A Locations: - p.Arg36Leu (Ensembl:ENST00000568561) - c.107G>T (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs752496883 | 38 | E>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.1771321C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771321C>A Locations: - p.Glu38Ter (Ensembl:ENST00000568561) - c.112G>T (Ensembl:ENST00000568561) Source type: large scale study | |||||||
rs1214692982 | 38 | E>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.895) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771320T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771320T>G Locations: - p.Glu38Ala (Ensembl:ENST00000568561) - c.113A>C (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs1214692982 | 38 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771320T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771320T>C Locations: - p.Glu38Gly (Ensembl:ENST00000568561) - c.113A>G (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs752496883 | 38 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.727) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771321C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771321C>T Locations: - p.Glu38Lys (Ensembl:ENST00000568561) - c.112G>A (Ensembl:ENST00000568561) Source type: large scale study | |||||||
rs752496883 | 38 | E>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.862) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771321C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771321C>G Locations: - p.Glu38Gln (Ensembl:ENST00000568561) - c.112G>C (Ensembl:ENST00000568561) Source type: large scale study | |||||||
rs1337489708 | 39 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.089) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.1771318T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771318T>C Locations: - p.Arg39Gly (Ensembl:ENST00000568561) - c.115A>G (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs1271749639 | 39 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.53) Somatic: No Accession: NC_000016.10:g.1771317C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771317C>T Locations: - p.Arg39Lys (Ensembl:ENST00000568561) - c.116G>A (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs1271749639 | 39 | R>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.579) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771317C>A Codon: AGG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771317C>A Locations: - p.Arg39Met (Ensembl:ENST00000568561) - c.116G>T (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs1228267136 | 41 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.488) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771312C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771312C>G Locations: - p.Gly41Arg (Ensembl:ENST00000568561) - c.121G>C (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs2141975530 | 41 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771311C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771311C>A Locations: - p.Gly41Val (Ensembl:ENST00000568561) - c.122G>T (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs1036058867 | 42 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.35) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000016.10:g.1771309A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771309A>G Locations: - p.Phe42Leu (Ensembl:ENST00000568561) - c.124T>C (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs202165010 | 43 | K>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000016.10:g.1771305T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771305T>C Locations: - p.Lys43Arg (Ensembl:ENST00000568561) - c.128A>G (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs2042595728 | 44 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.914) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771303A>C Codon: TTG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771303A>C Locations: - p.Leu44Val (Ensembl:ENST00000568561) - c.130T>G (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs1441270101 | 45 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771300C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771300C>T Locations: - p.Val45Met (Ensembl:ENST00000568561) - c.133G>A (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs760616140 | 46 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.808) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771297C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771297C>T Locations: - p.Ala46Thr (Ensembl:ENST00000568561) - c.136G>A (Ensembl:ENST00000568561) Source type: large scale study | |||||||
rs1281525361 | 46 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.853) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771296G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771296G>A Locations: - p.Ala46Val (Ensembl:ENST00000568561) - c.137C>T (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs767592231 | 49 | L>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.183) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771288G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771288G>C Locations: - p.Leu49Val (Ensembl:ENST00000568561) - c.145C>G (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs909152939 | 50 | V>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.397) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.1771284A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771284A>T Locations: - p.Val50Glu (Ensembl:ENST00000568561) - c.149T>A (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs2042595368 | 50 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000016.10:g.1771285C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771285C>T Locations: - p.Val50Met (Ensembl:ENST00000568561) - c.148G>A (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs1159771158 | 51 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.1771282G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771282G>A Locations: - p.Gln51Ter (Ensembl:ENST00000568561) - c.151C>T (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs1159771158 | 51 | Q>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.192) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771282G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771282G>C Locations: - p.Gln51Glu (Ensembl:ENST00000568561) - c.151C>G (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs1468207516 | 51 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.748) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000016.10:g.1771280C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771280C>A Locations: - p.Gln51His (Ensembl:ENST00000568561) - c.153G>T (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs1159771158 | 51 | Q>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000016.10:g.1771282G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771282G>T Locations: - p.Gln51Lys (Ensembl:ENST00000568561) - c.151C>A (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs755983096 | 52 | A>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.1771190G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771190G>T Locations: - p.Ala52Glu (Ensembl:ENST00000568561) - c.155C>A (Ensembl:ENST00000568561) Source type: large scale study | |||||||
rs755983096 | 52 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771190G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771190G>C Locations: - p.Ala52Gly (Ensembl:ENST00000568561) - c.155C>G (Ensembl:ENST00000568561) Source type: large scale study | |||||||
rs1477761351 | 52 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.914) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771191C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771191C>T Locations: - p.Ala52Thr (Ensembl:ENST00000568561) - c.154G>A (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs755983096 | 52 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.283) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000016.10:g.1771190G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771190G>A Locations: - p.Ala52Val (Ensembl:ENST00000568561) - c.155C>T (Ensembl:ENST00000568561) Source type: large scale study | |||||||
rs552873632 | 53 | A>D | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771187G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771187G>T Locations: - p.Ala53Asp (Ensembl:ENST00000568561) - c.158C>A (Ensembl:ENST00000568561) Source type: large scale study Cross-references: | |||||||
rs781241753 | 53 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.1771188C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771188C>T Locations: - p.Ala53Thr (Ensembl:ENST00000568561) - c.157G>A (Ensembl:ENST00000568561) Source type: large scale study | |||||||
rs1475636893 | 54 | *>R | TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000016.10:g.1771185A>G, NC_000016.10:g.1771185A>T Codon: TGA/CGA Consequence type: stop lost Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.1771185A>G, NC_000016.10:g.1771185A>T Locations: - p.Ter54ArgextTer78 (Ensembl:ENST00000568561) - c.160T>C (Ensembl:ENST00000568561) - c.160T>A (Ensembl:ENST00000568561) Source type: large scale study Cross-references: |