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Variant (rsID / SNP)

rs121908228

CACNA1A

rs121908228 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1A. Location: chromosome 19, position 13,476,158. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CACNA1ALikely pathogenic
Clinical significance (as recorded)
Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
19:13476158
Cytoband
19p13.13
HGVS
NM_001127222.2(CACNA1A):c.757C>T (p.His253Tyr)
Allele change
Missense_H253Y

Associated conditions / phenotypes

Episodic ataxia type 2|Episodic ataxia type 2|Developmental and epileptic encephalopathy, 42

Public references

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