Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Ser140Gly (p.S140G)
(
ENST00000496887.7,
ENST00000155840.12,
ENST00000713725.1,
ENST00000646564.2,
ENST00000335475.6 )
KCNQ1 p.Ser140Gly (p.S140G) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- atrioventricular block
- Source Database
- DisGeNET
- Description
- Human KCNQ1 S140G mutation is associated with atrioventricular blocks.
- Pubmed
- 17467630
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00290991572276264
- Year of publication
- 2007
Drugs