Variant (rsID / SNP)
rs120074190
rs120074190 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ1. Location: chromosome 11, position 2,799,239. Clinical significance in the table: Pathogenic.
Reference-table entries
KCNQ1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:2799239
- Cytoband
- 11p15.5
- HGVS
- NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp)
- Allele change
- Missense_G589D
Associated conditions / phenotypes
Long QT syndrome 1|Jervell and Lange-Nielsen syndrome 1|Congenital long QT syndrome|Cardiovascular phenotype|Long QT syndrome|Long QT syndrome 1|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.