| Variant ID | 14733 |
|---|---|
| Entrez Gene ID | 3778 |
| Gene | KCNMA1 (GeneCards) |
| Location | hg19 10:78951160-78951160
hg38 10:77191402-77191402 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.78951160 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3266 |
| CADD Raw score (version 1.3) | -0.120683 (Deleterious) |
| FATHMM raw prediction score | 0.151 (Tolerated) |
| Deleterious probability by DeFine | 0.2765 (Neutral) |
| Entrez Gene ID | 3778 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KCNMA1 (GeneCards) |
| Number of variants in KCNMA1 in this database | 9 (view all the variants) |
| Full name | potassium calcium-activated channel subfamily M alpha 1 |
| Band | 10q22.3 |
| Other IDs | Vega: OTTHUMG00000018543 OMIM: 600150 HGNC: HGNC:6284 Ensembl: ENSG00000156113 |
| Other names | SLO, BKTM, SLO1, hSlo, MaxiK, PNKD3, SAKCA, mSLO1, CADEDS, KCa1.1, SLO-ALPHA, bA205K10.1 |
| Summary | MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit, which is the product of this gene, and the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.17 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |