Variant (rsID / SNP)
rs145229963
rs145229963 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ1. Location: chromosome 11, position 2,610,046. Clinical significance in the table: Uncertain significance.
Reference-table entries
KCNQ1Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:2610046
- Cytoband
- 11p15.5
- HGVS
- NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln)
- Allele change
- Missense_R452Q
Associated conditions / phenotypes
Cardiovascular phenotype|Long QT syndrome|Familial atrial fibrillation|Jervell and Lange-Nielsen syndrome|Short QT syndrome|Congenital long QT syndrome|Short QT syndrome type 2|Atrial fibrillation, familial, 3|Beckwith-Wiedemann syndrome|Jervell and Lange-Nielsen syndrome 1|Long QT 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.