CACNA1H Chromosome 16

Calcium voltage-gated channel subunit alpha1 H
498 variants 498 Health Risk

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What This Gene Does
This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Calcium voltage-gated channel alpha1 subunits
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000196557
Associated Conditions (20)
Hyperaldosteronism
familial
type IV
Idiopathic generalized epilepsy
Epilepsy
childhood absence
susceptibility to
6
Inborn genetic diseases
CACNA1H-related disorder
Increased circulating aldosterone concentration
See cases
idiopathic generalized
Breast ductal adenocarcinoma
Abnormal brain morphology
Arteriovenous malformation
Tremor
Hand tremor
Cerebral arteriovenous malformation
Primary aldosteronism
Key Variants
RS1002596641
Conflicting classifications of pathogenicity
Hyperaldosteronism, familial, type IV
Health Risk
RS1003957584
Conflicting classifications of pathogenicity
Epilepsy, childhood absence, susceptibility to
Health Risk
RS1018925405
Conflicting classifications of pathogenicity
Epilepsy, childhood absence, susceptibility to
Health Risk
RS1025586071
Conflicting classifications of pathogenicity
Idiopathic generalized epilepsy, Hyperaldosteronism, familial
Health Risk
RS1039258079
Conflicting classifications of pathogenicity
Idiopathic generalized epilepsy, Hyperaldosteronism, familial
Health Risk
RS1040565692
Conflicting classifications of pathogenicity
Idiopathic generalized epilepsy, Hyperaldosteronism, familial
Health Risk
RS1042036647
Conflicting classifications of pathogenicity
Hyperaldosteronism, familial, type IV
Health Risk
RS1050602820
Conflicting classifications of pathogenicity
Epilepsy, childhood absence, susceptibility to
Health Risk
RS1056058034
Conflicting classifications of pathogenicity
Idiopathic generalized epilepsy, Hyperaldosteronism, familial
Health Risk
RS1057523326
Conflicting classifications of pathogenicity
Hyperaldosteronism, familial, type IV
Health Risk
RS1064793076
Conflicting classifications of pathogenicity
Epilepsy, childhood absence, susceptibility to
Health Risk
RS112068805
Conflicting classifications of pathogenicity
Idiopathic generalized epilepsy, Hyperaldosteronism, familial
Health Risk
All Variants (498)
RSID Category Clinical Significance Conditions
RS778943919 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS779476529 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS779526640 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS779547523 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS779724136 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS779875096 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS780122141 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS780522034 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS780672769 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS780831084 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS780870706 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS780993667 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS781264742 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS781343756 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS879352720 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS894257173 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS898257627 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS899082537 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS899655295 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS900768678 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS902030420 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS904060362 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS905456471 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS907429190 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS921726348 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS921830082 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS926942003 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence, susceptibility to
RS929083218 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS932161061 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS935642453 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS946203349 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS948561024 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS973149799 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS977157885 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS984851087 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS987712309 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS988908130 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS990512900 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS994418105 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS995882071 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Idiopathic generalized epilepsy, Hyperaldosteronism
RS997846742 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Idiopathic generalized epilepsy, Hyperaldosteronism
RS1057518033 Health Risk Likely pathogenic —
RS1555510028 Health Risk Likely pathogenic —
RS2141386055 Health Risk Likely pathogenic —
RS775271588 Health Risk Likely pathogenic Abnormal brain morphology, Abnormal brain morphology
RS2548707698 Health Risk Pathogenic Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS786205050 Health Risk Pathogenic Primary aldosteronism, Hyperaldosteronism, familial
RS119454947 Health Risk risk factor Epilepsy, childhood absence, susceptibility to
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