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CACNA1D |
Gene Facts External Data Attribution
- HGNC Symbol
- CACNA1D (HGNC:1391) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- calcium voltage-gated channel subunit alpha1 D
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- CCHL1A2, CACNL1A2
- Alias symbols
- Cav1.3, CACH3, CACN4
- %HI
- 9.14(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.25(Read more about gnomAD LOEUF score)
- Cytoband
- 3p21.1
- Genomic Coordinates
-
GRCh37/hg19: chr3:53528638-53847760 NCBI Ensembl UCSC GRCh38/hg38: chr3:53494611-53813733 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001128840.3 ENST00000350061.11 (Read more about MANE Select)
- MANE Plus Clinical Transcript(s)
-
NM_000720.4 ENST00000288139.11 (Read more about MANE Plus Clinical) - Function
- Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkyla... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-28401
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000003.11)
(NC_000003.12)
