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
RS1002596641 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS1003957584 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence, susceptibility to
RS1018925405 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence, susceptibility to
RS1025586071 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1039258079 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1040565692 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1042036647 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS1050602820 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence, susceptibility to
RS1056058034 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1057523326 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS1064793076 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence, susceptibility to
RS112068805 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1165393509 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS1171167857 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1180154075 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS1197948600 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1198273560 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1203994251 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1230959391 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS1238128692 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS1244188050 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1244507563 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1245328322 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS1264293762 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1275378306 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS1288484976 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS1289882454 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS1312406661 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1315448028 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hyperaldosteronism, familial
RS1316230541 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1318871844 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS1325999341 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1334468304 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1348188346 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS1348476527 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS1350474919 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS1357838162 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1358617715 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1367396955 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1370356700 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1372002770 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1387716276 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS139080716 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS1399681066 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1401713017 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS140421233 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1418372954 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS142306293 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS1430474816 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS1431381776 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
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