Variant (rsID / SNP)

rs2279020

rs2279020 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GABRA1. Location: chromosome 5, position 161,322,889. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GABRA1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:161322889
Cytoband: 5q34
HGVS: NM_001127644.2(GABRA1):c.1059+15G>A
Allele change: Silent

Associated conditions / phenotypes

Epilepsy, idiopathic generalized, susceptibility to, 13|Developmental and epileptic encephalopathy, 19|Epilepsy, idiopathic generalized, susceptibility to, 13|Idiopathic generalized epilepsy|Epilepsy, childhood absence 4

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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