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Variant (rsID / SNP)

rs121908247

CACNA1A

rs121908247 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1A. Location: chromosome 19, position 13,346,507. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CACNA1AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:13346507
Cytoband
19p13.13
HGVS
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)
Allele change
Missense_R1664Q

Associated conditions / phenotypes

Spinocerebellar ataxia type 6|Chronic and progressive ataxia|Enlarged cisterna magna|Global developmental delay|Episodic ataxia type 2|Developmental and epileptic encephalopathy, 42|Episodic ataxia type 2|History of neurodevelopmental disorder|Ataxia _ Neurologic (child onset)|Non-progressive congenital cerebellar ataxia|Neurodevelopmental delay

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.