| Variant ID | 966 |
|---|---|
| Entrez Gene ID | 779 |
| Gene | CACNA1S (GeneCards) |
| Location | hg19 1:201029906-201029906
hg38 1:201060778-201060778 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.201029906 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1098 |
| Amino acid changes in protein | L > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.2863 |
| CADD Raw score (version 1.3) | 1.009106 (Deleterious) |
| FATHMM raw prediction score | 0.9647 (Tolerated) |
| Deleterious probability by DeFine | 0.895 (Deleterious) |
| Entrez Gene ID | 779 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CACNA1S (GeneCards) |
| Number of variants in CACNA1S in this database | 1 (view all the variants) |
| Full name | calcium voltage-gated channel subunit alpha1 S |
| Band | 1q32.1 |
| Other IDs | Vega: OTTHUMG00000035784 OMIM: 114208 HGNC: HGNC:1397 Ensembl: ENSG00000081248 |
| Other names | MHS5, HOKPP, TTPP1, Cav1.1, HOKPP1, hypoPP, CCHL1A3, CACNL1A3 |
| Summary | This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |