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CACNA1D - calcium voltage-gated channel subunit alpha1 D
- Synonym(s) : CACH3, CACN4, Cav1.3
- Previous symbols and names : CACNL1A2, CCHL1A2, calcium channel, voltage-dependent, L type, alpha 1D subunit
- Type : gene with protein product
- Chromosomal location : 3p21.1
- OMIM: 114206
- HGNC: 1391
- UniProtKB: Q01668
- Genatlas: CACNA1D
- GenCC: CACNA1D
- Ensembl: ENSG00000157388
- IUPHAR-DB: 530
- Reactome: Q01668
- LOVD: CACNA1D
Diseases list
- Disease-causing germline mutation(s) (loss of function) in Sinoatrial node dysfunction and deafness
ORPHA:324321 
- Disease-causing germline mutation(s) (gain of function) in Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
ORPHA:369929 - Disease-causing somatic mutation(s) in NON RARE IN EUROPE: Aldosterone-producing adenoma
ORPHA:85142
: AssessedAdditional information
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