Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Gln147Arg (p.Q147R)
(
ENST00000496887.7,
ENST00000155840.12,
ENST00000713725.1,
ENST00000335475.6,
ENST00000646564.2 )
KCNQ1 p.Gln147Arg (p.Q147R) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- Fibrillation
- Source Database
- DisGeNET
- Description
- KCNQ1 mutation Q147R is associated with atrial fibrillation and prolonged QT interval.
- Pubmed
- 17997361
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00488595369744546
- Year of publication
- 2007
Drugs