Variant (rsID / SNP)
rs199472728
rs199472728 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ1. Location: chromosome 11, position 2,594,115. 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
- 11:2594115
- Cytoband
- 11p15.5
- HGVS
- NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val)
- Allele change
- Missense_I274V
Associated conditions / phenotypes
Congenital long QT syndrome|SUDDEN INFANT DEATH SYNDROME|Long QT syndrome|Long QT syndrome 1|Jervell and Lange-Nielsen syndrome 1|Atrial fibrillation, familial, 3|Short QT syndrome type 2|Cardiac arrhythmia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.