Variant (rsID / SNP)

rs794726860

rs794726860 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC6A1. Location: chromosome 3, position 11,067,472. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SLC6A1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:11067472
Cytoband: 3p25.3
HGVS: NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val)
Allele change: Missense_A110V

Associated conditions / phenotypes

Myoclonic-atonic epilepsy|Inborn genetic diseases

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.