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
RS750732485 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS751036176 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS751085066 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS751148760 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Idiopathic generalized epilepsy, Hyperaldosteronism
RS751423106 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS751642419 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS752385455 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS752653043 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS752799249 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS752986607 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS753077813 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS753159318 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS753241781 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS753494538 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS753696656 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS753869048 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS753993842 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS754154177 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS754161411 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS754166849 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS754398374 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS754581272 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS755669926 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS755717160 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS755726905 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Idiopathic generalized epilepsy, Hyperaldosteronism
RS755918582 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS756026742 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS756154211 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS756181994 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS756344458 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS756550215 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS756747669 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS757299200 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS757713867 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS757893642 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS757946905 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS758039020 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS758461760 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS758674093 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS759262489 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS759349379 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS759668583 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS760258010 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence, susceptibility to
RS760412982 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS760918600 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS760928741 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hyperaldosteronism, familial
RS761025927 Health Risk Conflicting classifications of pathogenicity Breast ductal adenocarcinoma, Idiopathic generalized epilepsy, Hyperaldosteronism
RS761063520 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
RS761083620 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism, familial
RS761199543 Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial, type IV
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