Variant (rsID / SNP)
rs120074187
rs120074187 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ1. Location: chromosome 11, position 2,594,193. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
KCNQ1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:2594193
- Cytoband
- 11p15.5
- HGVS
- NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr)
- Allele change
- Missense_A300T
Associated conditions / phenotypes
Long QT syndrome 1|Long QT syndrome|Cardiovascular phenotype|Atrial fibrillation, familial, 3|Short QT syndrome type 2|Jervell and Lange-Nielsen syndrome 1|Cardiac arrhythmia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.