Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Leu266Pro (p.L266P)
(
ENST00000713725.1,
ENST00000646564.2,
ENST00000335475.6,
ENST00000155840.12,
ENST00000496887.7 )
KCNQ1 p.Leu266Pro (p.L266P) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- long QT syndrome
- Source Database
- DisGeNET
- Description
- Genetic testing in this LQTS population suggests a common KCNQ1 Leu266Pro founder effect, with the descendants clustering in our geographical region even though no common relative has been identified.
- Pubmed
- 19817925
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.41651083741347
- Year of publication
- 2010
Drugs