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Variant (rsID / SNP)

rs796052492

GABRA1

rs796052492 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GABRA1. Location: chromosome 5, position 161,317,999. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GABRA1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:161317999
Cytoband
5q34
HGVS
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile)
Allele change
Missense_L267I

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 19|Epilepsy, idiopathic generalized, susceptibility to, 13|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.