CACNA1G Chromosome 17
Calcium voltage-gated channel subunit alpha1 G
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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
RS113760990
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS116920450
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 42, Spinocerebellar ataxia type 42
Health Risk
RS1208505871
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1290398685
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1312607495
Conflicting classifications of pathogenicity
Spinocerebellar ataxia 42, early-onset, severe
Health Risk
RS1350367936
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1363009203
Conflicting classifications of pathogenicity
CACNA1G-related disorder, Inborn genetic diseases, CACNA1G-related disorder
Health Risk
RS1396957653
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1444290546
Conflicting classifications of pathogenicity
Spinocerebellar ataxia 42, early-onset, severe
Health Risk
RS184328705
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200141555
Conflicting classifications of pathogenicity
Spinocerebellar ataxia 42, early-onset, severe
Health Risk
RS200203979
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 42, Inborn genetic diseases, Spinocerebellar ataxia type 42
Health Risk
All Variants (97)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS756390450 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia 42, early-onset, severe |
| RS756958701 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS757138454 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS757227515 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS757588716 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS760153204 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS761241506 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Spinocerebellar ataxia type 42, Inborn genetic diseases |
| RS761563364 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762245146 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS762314651 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 42, Spinocerebellar ataxia type 42 |
| RS762521668 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS763256204 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS763813233 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS763847174 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia 42, early-onset, severe |
| RS764959766 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS768461820 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS768796872 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS769342382 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS771214256 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772770633 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS773526768 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS776897967 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779077930 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 42, Epilepsy, Spinocerebellar ataxia type 42 |
| RS779353394 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS947131228 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1051546563 | Health Risk | Likely pathogenic | Spastic ataxia, Spastic ataxia |
| RS1064795668 | Health Risk | Likely pathogenic | — |
| RS1160501227 | Health Risk | Likely pathogenic | — |
| RS1250995341 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 42, Spinocerebellar ataxia type 42 |
| RS1264202646 | Health Risk | Likely pathogenic | — |
| RS1555638141 | Health Risk | Likely pathogenic | — |
| RS1598588782 | Health Risk | Likely pathogenic | — |
| RS2039524843 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 42, Spinocerebellar ataxia type 42 |
| RS2145795264 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 42, Spinocerebellar ataxia type 42 |
| RS2145968180 | Health Risk | Likely pathogenic | Spinocerebellar ataxia 42, early-onset, severe |
| RS2146284067 | Health Risk | Likely pathogenic | Spastic ataxia, Spastic ataxia |
| RS2544775519 | Health Risk | Likely pathogenic | — |
| RS2544776076 | Health Risk | Likely pathogenic | — |
| RS2545574847 | Health Risk | Likely pathogenic | Spinocerebellar ataxia 42, early-onset, severe |
| RS2545574866 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 42, Spinocerebellar ataxia type 42 |
| RS730882202 | Health Risk | Likely pathogenic | Abnormal facial shape, Hirsutism, Abnormality of the skeletal system |
| RS779508150 | Health Risk | Likely pathogenic | Spinocerebellar ataxia 42, early-onset, severe |
| RS781412936 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS886039324 | Health Risk | Likely pathogenic | — |
| RS1555558553 | Health Risk | Pathogenic | Spinocerebellar ataxia 42, early-onset, severe |
| RS755221106 | Health Risk | Pathogenic | Spinocerebellar ataxia type 42, Spinocerebellar ataxia 42, early-onset |
| RS886041505 | Health Risk | Pathogenic | Inborn genetic diseases, Spinocerebellar ataxia 42, early-onset |