| Variant ID | 18703 |
|---|---|
| Entrez Gene ID | 56659 |
| Gene | KCNK13 (GeneCards) |
| Location | hg19 14:90631746-90631746
hg38 14:90165402-90165402 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.90631746 C>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2254 |
| CADD Raw score (version 1.3) | -0.12849 (Deleterious) |
| FATHMM raw prediction score | 0.1785 (Tolerated) |
| Deleterious probability by DeFine | 0.5859 (Deleterious) |
| Entrez Gene ID | 56659 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KCNK13 (GeneCards) |
| Number of variants in KCNK13 in this database | 2 (view all the variants) |
| Full name | potassium two pore domain channel subfamily K member 13 |
| Band | 14q32.11 |
| Other IDs | Vega: OTTHUMG00000171017 OMIM: 607367 HGNC: HGNC:6275 Ensembl: ENSG00000152315 |
| Other names | THIK1, THIK-1, K2p13.1 |
| Summary | Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a potassium channel containing two pore-forming domains. This protein is an open channel that can be stimulated by arachidonic acid and inhibited by the anesthetic halothane. [provided by RefSeq, Jul 2013] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |