Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs142385746

GABRA1

rs142385746 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GABRA1. Location: chromosome 5, position 161,324,407. 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
5:161324407
Cytoband
5q34
HGVS
NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=)
Allele change
Synonymous_K450K

Associated conditions / phenotypes

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

Public references

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