| Variant ID | 11676 |
|---|---|
| Entrez Gene ID | 157855 |
| Gene | KCNU1 (GeneCards) |
| Location | hg19 8:36901979-36901979
hg38 8:37044461-37044461 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.36901979 C>T (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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5756 |
| CADD Raw score (version 1.3) | 1.534606 (Deleterious) |
| FATHMM raw prediction score | 0.21756 (Tolerated) |
| Deleterious probability by DeFine | 0.789 (Deleterious) |
| Entrez Gene ID | 157855 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KCNU1 (GeneCards) |
| Number of variants in KCNU1 in this database | 5 (view all the variants) |
| Full name | potassium calcium-activated channel subfamily U member 1 |
| Band | 8p11.23 |
| Other IDs | Vega: OTTHUMG00000163981 OMIM: 615215 HGNC: HGNC:18867 Ensembl: ENSG00000215262 |
| Other names | KCa5, Slo3, KCNMC1, KCa5.1, Kcnma3 |
| Summary | This gene encodes a member of the potassium channel family of proteins. The encoded voltage-gated ion channel allows the outward flow of potassium ions during plasma membrane hyperpolarization in sperm. Opening of this channel may be regulated by calcium ion levels. Homozygous knockout mice that lack the related mouse gene exhibit male sterility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |