| Variant ID | 29463 |
|---|---|
| Entrez Gene ID | 8911 |
| Gene | CACNA1I (GeneCards) |
| Location | hg19 22:40066099-40066099
hg38 22:39670094-39670094 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000022.10:g.40066099 C>T (Genome Assembly: hg19) |
| 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 | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.4203 |
| CADD Raw score (version 1.3) | 2.455236 (Deleterious) |
| FATHMM raw prediction score | 0.9807 (Tolerated) |
| Deleterious probability by DeFine | 0.942 (Deleterious) |
| Entrez Gene ID | 8911 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CACNA1I (GeneCards) |
| Number of variants in CACNA1I in this database | 5 (view all the variants) |
| Full name | calcium voltage-gated channel subunit alpha1 I |
| Band | 22q13.1 |
| Other IDs | Vega: OTTHUMG00000151096 OMIM: 608230 HGNC: HGNC:1396 Ensembl: ENSG00000100346 |
| Other names | Cav3.3, ca(v)3.3 |
| Summary | This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011] |
| Individual ID | 28714951.139 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |