Variant (rsID / SNP)

rs794727962

rs794727962 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GABRA1. Location: chromosome 5, position 161,318,051. 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: 5:161318051
Cytoband: 5q34
HGVS: NM_001127644.2(GABRA1):c.851T>C (p.Val284Ala)
Allele change: Missense_V284A

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.