| Variant ID | 148 |
|---|---|
| Entrez Gene ID | 775 |
| Gene | CACNA1C (GeneCards) |
| Location | hg19 12:2613704-2613704
hg38 12:2504538-2504538 |
| Disease | Timothy syndrome type1 (view all the variants in this disease) |
| Method | ABI3730 |
| Mutation(HGVS format) | NC_000012.11:g.2613704 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 8A |
| Position in protein | 406 |
| Amino acid changes in protein | G > R |
| Position in cDNA | 1216 |
| Changes in cDNA | G > A |
| mRNA accession | NM_001167625.1 |
| mRNA length | 6597 |
| Reference length | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 1628509 |
| Variant occurences in COSMIC | 1(liver) |
| EIGEN score | 0.5308 |
| CADD Raw score (version 1.3) | 2.191946 (Deleterious) |
| FATHMM raw prediction score | 0.99492 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.94 |
| PhyloP score based on multiple alignment of 100 vertebrates | 10.003 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.362 |
| Deleterious probability by DeFine | 0.9737 (Deleterious) |
| Entrez Gene ID | 775 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CACNA1C (GeneCards) |
| Number of variants in CACNA1C in this database | 8 (view all the variants) |
| Full name | calcium voltage-gated channel subunit alpha1 C |
| Band | 12p13.33 |
| Other IDs | Vega: OTTHUMG00000150243 OMIM: 114205 HGNC: HGNC:1390 Ensembl: ENSG00000151067 |
| Other names | TS, LQT8, CACH2, CACN2, CaV1.2, CCHL1A1, CACNL1A1 |
| Summary | This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012] |
| Individual ID | 21910241.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 21910241 |
| Whose mosaic mutation | Father |
| Phenotype | 2 |
| Number of affected children | 1 ( male: 1; ) |
| Disease | Timothy syndrome type1 (view all the variants in this disease) |
| OMIM ID | 601005 |
| Pubmed ID | 21910241 |
|---|---|
| Title | Somatic Mosaicism Contributes to Phenotypic Variation in Timothy Syndrome |
| Journal | American Journal of Medical Genetics |
| Publication date | 2011.01 |
| Disease | Timothy syndrome type 1 |
| Number of cases | Male cases: 1; Female cases: 1; |