CACNA1G Chromosome 17

Calcium voltage-gated channel subunit alpha1 G
97 variants 97 Health Risk

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What This Gene Does
Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
Calcium voltage-gated channel alpha1 subunits
Locus Type
gene with protein product
Location
17q21.33
Ensembl
ENSG00000006283
Associated Conditions (16)
Inborn genetic diseases
Spinocerebellar ataxia type 42
Spinocerebellar ataxia 42
early-onset
severe
with neurodevelopmental deficits
CACNA1G-related disorder
Vascular disorder
Epilepsy
Spastic ataxia
Abnormal facial shape
Hirsutism
Abnormality of the skeletal system
Severe intellectual disability
Neurodevelopmental delay
Neurodevelopmental abnormality
Key Variants
All Variants (97)
RSID Category Clinical Significance Conditions
RS113760990 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS116920450 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 42, Spinocerebellar ataxia type 42
RS1208505871 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1290398685 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1312607495 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia 42, early-onset, severe
RS1350367936 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1363009203 Health Risk Conflicting classifications of pathogenicity CACNA1G-related disorder, Inborn genetic diseases, CACNA1G-related disorder
RS1396957653 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1444290546 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia 42, early-onset, severe
RS184328705 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200141555 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia 42, early-onset, severe
RS200203979 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 42, Inborn genetic diseases, Spinocerebellar ataxia type 42
RS201788352 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202055246 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2146373286 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 42, Spinocerebellar ataxia type 42
RS2301833 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 42, Inborn genetic diseases, Spinocerebellar ataxia type 42
RS368092640 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368133994 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368561457 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 42, Spinocerebellar ataxia type 42
RS369751310 Health Risk Conflicting classifications of pathogenicity
RS370349028 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372274867 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372802826 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373540931 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374573766 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375878431 Health Risk Conflicting classifications of pathogenicity
RS377336879 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS3833150 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia 42, early-onset, severe
RS527612343 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 42, Inborn genetic diseases, Spinocerebellar ataxia type 42
RS528237932 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS531596059 Health Risk Conflicting classifications of pathogenicity
RS539364383 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS541541250 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 42, Spinocerebellar ataxia type 42
RS543673731 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS545668335 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Vascular disorder, Inborn genetic diseases
RS57225302 Health Risk Conflicting classifications of pathogenicity CACNA1G-related disorder, Inborn genetic diseases, CACNA1G-related disorder
RS573971701 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS577659325 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia 42, early-onset, severe
RS745758403 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746536941 Health Risk Conflicting classifications of pathogenicity CACNA1G-related disorder, Inborn genetic diseases, CACNA1G-related disorder
RS747028553 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 42, Inborn genetic diseases, Spinocerebellar ataxia type 42
RS747347699 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 42, Inborn genetic diseases, Spinocerebellar ataxia type 42
RS749813523 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CACNA1G-related disorder, Inborn genetic diseases
RS750174107 Health Risk Conflicting classifications of pathogenicity
RS751210873 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia 42, early-onset, severe
RS751825784 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751896733 Health Risk Conflicting classifications of pathogenicity
RS752773885 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753909559 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754170584 Health Risk Conflicting classifications of pathogenicity
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