Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Val205Met (p.V205M)
(
ENST00000713725.1,
ENST00000335475.6,
ENST00000646564.2,
ENST00000155840.12,
ENST00000496887.7 )
KCNQ1 p.Val205Met (p.V205M) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- long QT syndrome
- Source Database
- DisGeNET
- Description
- A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact.
- Pubmed
- 18580685
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.41651083741347
- Year of publication
- 2008
Drugs