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Variant (rsID / SNP)

rs187393245

CACNA1A

rs187393245 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1A. Location: chromosome 19, position 13,397,704. 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
19:13397704
Cytoband
19p13.13
HGVS
NM_001127222.2(CACNA1A):c.3166C>T (p.Arg1056Cys)
Allele change
Missense_R1057C

Associated conditions / phenotypes

Episodic ataxia type 2|Developmental and epileptic encephalopathy, 42|History of neurodevelopmental disorder

Public references

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