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Variant (rsID / SNP)

rs374749004

CACNA1A

rs374749004 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1A. Location: chromosome 19, position 13,397,561. 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
19:13397561
Cytoband
19p13.13
HGVS
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=)
Allele change
Synonymous_P1104P

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 42|Episodic ataxia type 2

Public references

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