Variant (rsID / SNP)
rs11601907
rs11601907 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ1. Location: chromosome 11, position 2,869,188. Clinical significance in the table: Benign.
Reference-table entries
KCNQ1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:2869188
- Cytoband
- 11p15.4
- HGVS
- NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662_Glu663=)
- Allele change
- Nonsense_Y662X
Associated conditions / phenotypes
Cardiovascular phenotype|Short QT syndrome type 2|Jervell and Lange-Nielsen syndrome 1|Atrial fibrillation, familial, 3|Congenital long QT syndrome|Long QT syndrome|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.