Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs374616425

GABRA1

rs374616425 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GABRA1. Location: chromosome 5, position 161,309,616. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

GABRA1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:161309616
Cytoband
5q34
HGVS
NM_001127644.2(GABRA1):c.612C>T (p.Arg204=)
Allele change
Synonymous_R204R

Associated conditions / phenotypes

Idiopathic generalized epilepsy|Epilepsy, idiopathic generalized, susceptibility to, 13|Epilepsy, childhood absence 4

Public references

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