Variant (rsID / SNP)

rs115069685

rs115069685 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GABRA6. Location: chromosome 5, position 161,115,984. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GABRA6Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:161115984
Cytoband: 5q34
HGVS: NM_000811.3(GABRA6):c.255G>C (p.Gln85His)
Allele change: Missense_Q85H

Associated conditions / phenotypes

Childhood absence epilepsy

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.