| Variant ID | 23454 |
|---|---|
| Entrez Gene ID | 774 |
| Gene | CACNA1B (GeneCards) |
| Location | hg19 9:140836768-140836768
hg38 9:137942316-137942316 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000009.11:g.140836768 T>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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.8141 |
| CADD Raw score (version 1.3) | -0.527417 (Deleterious) |
| FATHMM raw prediction score | 0.03381 (Tolerated) |
| Deleterious probability by DeFine | 0.151 (Neutral) |
| Entrez Gene ID | 774 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CACNA1B (GeneCards) |
| Number of variants in CACNA1B in this database | 2 (view all the variants) |
| Full name | calcium voltage-gated channel subunit alpha1 B |
| Band | 9q34.3 |
| Other IDs | Vega: OTTHUMG00000021002 OMIM: 601012 HGNC: HGNC:1389 Ensembl: ENSG00000148408 |
| Other names | BIII, CACNN, DYT23, Cav2.2, CACNL1A5 |
| Summary | The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] |
| Individual ID | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |