Variant (rsID / SNP)
rs112113213
rs112113213 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ1. Location: chromosome 11, position 2,869,077. 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
- 11:2869077
- Cytoband
- 11p15.4
- HGVS
- NM_000218.3(KCNQ1):c.1875C>T (p.Pro625_Gly626=)
- Allele change
- Synonymous_P625P
Associated conditions / phenotypes
Long QT syndrome|Atrial fibrillation, familial, 3|Cardiovascular phenotype|Jervell and Lange-Nielsen syndrome 1|Short QT syndrome type 2|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.