F5H7I0 · F5H7I0_HUMAN
- ProteinPotassium channel tetramerization domain containing 6
- GeneKCTD6
- 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 | ||
---|---|---|---|---|---|---|---|
rs1246673437 | 3 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000003.12:g.58500953A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58500953A>G Locations: - p.Asp3Gly (Ensembl:ENST00000491093) - c.8A>G (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs2063202191 | 5 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.899) - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000003.12:g.58500958G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58500958G>A Locations: - p.Val5Ile (Ensembl:ENST00000491093) - c.13G>A (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs953437447 | 8 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.58500968A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58500968A>G Locations: - p.Asn8Ser (Ensembl:ENST00000491093) - c.23A>G (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs1358576901 | 9 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.58500970G>T Codon: GTA/TTA Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58500970G>T Locations: - p.Val9Leu (Ensembl:ENST00000491093) - c.25G>T (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs377286438 | 10 | G>D | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.58500974G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58500974G>A Locations: - p.Gly10Asp (Ensembl:ENST00000491093) - c.29G>A (Ensembl:ENST00000491093) Source type: large scale study | |||||||
COSV57150415 rs762676084 | 10 | G>S | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000003.12:g.58500973G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58500973G>A Locations: - p.Gly10Ser (Ensembl:ENST00000491093) - c.28G>A (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs572233766 | 12 | H>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.403) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000003.12:g.58500981C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58500981C>G Locations: - p.His12Gln (Ensembl:ENST00000491093) - c.36C>G (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs1458876639 | 13 | L>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.663) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.58500983T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58500983T>C Locations: - p.Leu13Ser (Ensembl:ENST00000491093) - c.38T>C (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs761344255 | 15 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.292) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.58500988A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58500988A>G Locations: - p.Thr15Ala (Ensembl:ENST00000491093) - c.43A>G (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
COSV57148387 rs767509568 | 16 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Population frequencies: - MAF: 0.000004048 (gnomAD) Accession: NC_000003.12:g.58500992C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58500992C>T Locations: - p.T16M (NCI-TCGA:ENST00000491093) - p.Thr16Met (Ensembl:ENST00000491093) - c.47C>T (Ensembl:ENST00000491093) Source type: large scale study | |||||||
rs1430910877 | 19 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.58501001C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501001C>T Locations: - p.Thr19Ile (Ensembl:ENST00000491093) - c.56C>T (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs755190923 | 22 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.097) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.58501009A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501009A>G Locations: - p.Thr22Ala (Ensembl:ENST00000491093) - c.64A>G (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
COSV100250262 rs779042947 | 22 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.758) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001996 (gnomAD) Accession: NC_000003.12:g.58501010C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501010C>T Locations: - p.T22M (NCI-TCGA:ENST00000491093) - p.Thr22Met (Ensembl:ENST00000491093) - c.65C>T (Ensembl:ENST00000491093) Source type: large scale study | |||||||
rs774870696 | 23 | R>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.58501012C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501012C>T Locations: - p.Arg23Cys (Ensembl:ENST00000491093) - c.67C>T (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs2063202563 | 23 | R>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.755) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.58501013G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501013G>A Locations: - p.Arg23His (Ensembl:ENST00000491093) - c.68G>A (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs2107977402 | 24 | Y>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000003.12:g.58501015T>G Codon: TAC/GAC Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501015T>G Locations: - p.Tyr24Asp (Ensembl:ENST00000491093) - c.70T>G (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs758361938 | 25 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.58501019C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501019C>T Locations: - p.Pro25Leu (Ensembl:ENST00000491093) - c.74C>T (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs758361938 | 25 | P>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.878) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.58501019C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501019C>A Locations: - p.Pro25Gln (Ensembl:ENST00000491093) - c.74C>A (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs867978400 | 27 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.58501025C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501025C>T Locations: - p.Ser27Phe (Ensembl:ENST00000491093) - c.80C>T (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs1193234165 | 32 | M>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.637) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.58501039A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501039A>G Locations: - p.Met32Val (Ensembl:ENST00000491093) - c.94A>G (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs1560205213 | 34 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000003.12:g.58501046G>C Codon: GGG/GCG Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501046G>C Locations: - p.Gly34Ala (Ensembl:ENST00000491093) - c.101G>C (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs1560205213 | 34 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000003.12:g.58501046G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501046G>A Locations: - p.Gly34Glu (Ensembl:ENST00000491093) - c.101G>A (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs201949188 | 34 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.41) Somatic: No Accession: NC_000003.12:g.58501045G>C, NC_000003.12:g.58501045G>A Codon: GGG/CGG Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501045G>C, NC_000003.12:g.58501045G>A Locations: - p.Gly34Arg (Ensembl:ENST00000491093) - c.100G>C (Ensembl:ENST00000491093) - c.100G>A (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs746165830 | 36 | D>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.254) - SIFT: tolerated - low confidence (0.51) Somatic: No Accession: NC_000003.12:g.58501052A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501052A>C Locations: - p.Asp36Ala (Ensembl:ENST00000491093) - c.107A>C (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs375393871 | 36 | D>E | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.548) - SIFT: tolerated - low confidence (0.79) Somatic: No Accession: NC_000003.12:g.58501053C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501053C>G Locations: - p.Asp36Glu (Ensembl:ENST00000491093) - c.108C>G (Ensembl:ENST00000491093) Source type: large scale study | |||||||
rs1467253205 | 36 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.847) - SIFT: tolerated - low confidence (0.37) Somatic: No Accession: NC_000003.12:g.58501051G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501051G>A Locations: - p.Asp36Asn (Ensembl:ENST00000491093) - c.106G>A (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs1467253205 | 36 | D>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.951) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.58501051G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501051G>T Locations: - p.Asp36Tyr (Ensembl:ENST00000491093) - c.106G>T (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs1484001107 | 37 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000003.12:g.58501054T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501054T>C Locations: - p.Phe37Leu (Ensembl:ENST00000491093) - c.109T>C (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs774094413 | 37 | F>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000003.12:g.58501056C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501056C>A Locations: - p.Phe37Leu (Ensembl:ENST00000491093) - c.111C>A (Ensembl:ENST00000491093) Source type: large scale study | |||||||
rs1484001107 | 37 | F>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated - low confidence (0.36) Somatic: No Accession: NC_000003.12:g.58501054T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501054T>G Locations: - p.Phe37Val (Ensembl:ENST00000491093) - c.109T>G (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs2063202872 | 41 | R>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.789) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000003.12:g.58501066C>G Codon: CGA/GGA Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501066C>G Locations: - p.Arg41Gly (Ensembl:ENST00000491093) - c.121C>G (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
COSV57149473 rs761436512 | 41 | R>Q | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.461) - SIFT: tolerated - low confidence (0.13) Somatic: Yes Accession: NC_000003.12:g.58501067G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501067G>A Locations: - p.Arg41Gln (Ensembl:ENST00000491093) - c.122G>A (Ensembl:ENST00000491093) Source type: large scale study | |||||||
rs1450461999 | 44 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000003.12:g.58501075C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501075C>G Locations: - p.Gln44Glu (Ensembl:ENST00000491093) - c.130C>G (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs2063202915 | 45 | G>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.58501078G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501078G>A Locations: - p.Gly45Ser (Ensembl:ENST00000491093) - c.133G>A (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs2063202933 | 46 | N>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated - low confidence (0.49) Somatic: No Accession: NC_000003.12:g.58501081A>C Codon: AAT/CAT Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501081A>C Locations: - p.Asn46His (Ensembl:ENST00000491093) - c.136A>C (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs771451590 | 51 | R>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.58501096C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501096C>T Locations: - p.Arg51Ter (Ensembl:ENST00000491093) - c.151C>T (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs1428043639 | 54 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000003.12:g.58501106C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501106C>T Locations: - p.Pro54Leu (Ensembl:ENST00000491093) - c.161C>T (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs1428043639 | 54 | P>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000003.12:g.58501106C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501106C>G Locations: - p.Pro54Arg (Ensembl:ENST00000491093) - c.161C>G (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
COSV57147785 rs1468365531 | 57 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000003978 (gnomAD) Accession: NC_000003.12:g.58501114C>T Codon: CGA/TGA Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501114C>T Locations: - p.R57* (NCI-TCGA:ENST00000491093) - p.Arg57Ter (Ensembl:ENST00000491093) - c.169C>T (Ensembl:ENST00000491093) Source type: large scale study | |||||||
rs1576980618 | 58 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.58501118A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501118A>G Locations: - p.Tyr58Cys (Ensembl:ENST00000491093) - c.173A>G (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs753636259 | 58 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.66) - SIFT: tolerated - low confidence (0.5) Somatic: No Accession: NC_000003.12:g.58501117T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501117T>C Locations: - p.Tyr58His (Ensembl:ENST00000491093) - c.172T>C (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs1045844694 | 61 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000003.12:g.58501127A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501127A>G Locations: - p.Asn61Ser (Ensembl:ENST00000491093) - c.182A>G (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs1004427894 | 65 | T>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.355) - SIFT: tolerated - low confidence (0.51) Somatic: No Accession: NC_000003.12:g.58501139C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501139C>G Locations: - p.Thr65Ser (Ensembl:ENST00000491093) - c.194C>G (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs1463903773 | 69 | T>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.894) - SIFT: tolerated - low confidence (0.37) Somatic: No Accession: NC_000003.12:g.58501150A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501150A>C Locations: - p.Thr69Pro (Ensembl:ENST00000491093) - c.205A>C (Ensembl:ENST00000491093) Source type: large scale study Cross-references: | |||||||
rs777697493 | 73 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.583) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.58501164T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 3p14.3 Genomic location: NC_000003.12:g.58501164T>G Locations: - p.Asp73Glu (Ensembl:ENST00000491093) - c.219T>G (Ensembl:ENST00000491093) Source type: large scale study Cross-references: |