Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Gly325Arg (p.G325R)
(
ENST00000155840.12,
ENST00000335475.6,
ENST00000646564.2,
ENST00000496887.7,
ENST00000713725.1 )
KCNQ1 p.Gly325Arg (p.G325R) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- Syncope
- Source Database
- DisGeNET
- Description
- Prior clinical reports revealed phenotypic variability ranging from the absence of symptoms to syncope among KCNQ1 G325R mutation carriers.
- Pubmed
- 23000022
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00962001765464952
- Year of publication
- 2012
Drugs