Variant (rsID / SNP)
rs120074193
rs120074193 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ1. Location: chromosome 11, position 2,594,100. Clinical significance in the table: Pathogenic.
Reference-table entries
KCNQ1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:2594100
- Cytoband
- 11p15.5
- HGVS
- NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser)
- Allele change
- Missense_G269S
Associated conditions / phenotypes
Long QT syndrome 1|Congenital long QT syndrome|Long QT syndrome|Jervell and Lange-Nielsen syndrome 1|Long QT syndrome 1|Beckwith-Wiedemann syndrome|Short QT syndrome type 2|Atrial fibrillation, familial, 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.