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
- Two First Nations communities in northern British Columbia are affected disproportionately with LQTS largely due to the V205M mutation in KCNQ1, however, the pathology and phenotypic expression for those V205M homozygous has been unknown.
- Pubmed
- 23844633
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.41651083741347
- Year of publication
- 2013
Drugs