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Variant (rsID / SNP)

rs551045474

GABRA1

rs551045474 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GABRA1. Location: chromosome 5, position 161,322,769. 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
5:161322769
Cytoband
5q34
HGVS
NM_001127644.2(GABRA1):c.954C>T (p.Ala318=)
Allele change
Synonymous_A318A

Associated conditions / phenotypes

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.