Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs375628894

CACNA1A

rs375628894 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1A. Location: chromosome 19, position 13,423,528. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CACNA1AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:13423528
Cytoband
19p13.13
HGVS
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=)
Allele change
Synonymous_G542G

Associated conditions / phenotypes

History of neurodevelopmental disorder|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.