Variant (rsID / SNP)
rs17221854
rs17221854 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ1. Location: chromosome 11, position 2,799,220. 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
- 11:2799220
- Cytoband
- 11p15.5
- HGVS
- NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)
- Allele change
- Missense_R583C
Associated conditions / phenotypes
Acquired susceptibility to long QT syndrome 1|Long QT syndrome 1|Congenital long QT syndrome|Jervell and Lange-Nielsen syndrome 1|Long QT syndrome 1|Beckwith-Wiedemann syndrome|Atrial fibrillation, familial, 3|Short QT syndrome type 2|KCNQ1-Related Disorders|Long QT syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.