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
RS201931839 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS201993286 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS202019417 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence, susceptibility to
RS202090928 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS2141242375 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS2141343082 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS28365117 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS28365119 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS28365125 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS367584657 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS367594144 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS367610523 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS367929249 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS368050707 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS368835582 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS368976749 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS369185359 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS369329819 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS369449263 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS369474500 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS369475886 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS369630836 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS369898856 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS369914175 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS369917102 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS369966669 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS370039255 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS370079169 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS370292995 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS370434906 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS370464756 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS370549651 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Idiopathic generalized epilepsy, Hyperaldosteronism
RS370675810 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS370867825 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS370883583 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS370996432 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS371030255 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS371167728 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS371324992 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS371494399 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS371500703 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS371550084 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS371573041 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS371658961 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS371925462 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS372000875 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS372118811 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS372126787 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS372367313 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS372472186 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
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