CACNA1H Chromosome 16

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

Upload your DNA to see your personal genotypes for variants in CACNA1H.

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
RS1433384279 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1435574238 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1437402680 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1437449624 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence, susceptibility to
RS1439949443 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1459266876 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1466647338 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1468102052 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1474486162 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Idiopathic generalized epilepsy, Hyperaldosteronism
RS1474686670 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS1474918637 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS147702970 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS1481524583 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS150821225 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS181140276 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS185769412 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS186422070 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS187225648 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS191938566 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1968050698 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS1969157452 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS199664795 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS199669141 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS199693105 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS199914911 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS199920661 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS199968897 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS200009613 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS200013690 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS200228767 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS200399120 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS200400235 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS200422681 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence, susceptibility to
RS200427760 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS200520956 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS200522574 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS200606995 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS200687647 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS200724225 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS200813987 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS200904795 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS200939989 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS200943355 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS201009269 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS201018826 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS201029419 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS201296407 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS201577113 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS201651793 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS201911360 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
« Prev 1 2 3 4 5 ... 10 Next »
Sign Up to Analyze Your DNA Log In