Variant (rsID / SNP)

rs3811993

rs3811993 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GABRA6. Location: chromosome 5, position 161,116,672. Clinical significance in the table: Benign.

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Reference-table entries

GABRA6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:161116672
Cytoband: 5q34
HGVS: NM_000811.3(GABRA6):c.560C>T (p.Thr187Met)
Allele change: Missense_T187M

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.