Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Phe275Ser (p.F275S)
(
ENST00000496887.7,
ENST00000155840.12,
ENST00000713725.1,
ENST00000335475.6,
ENST00000646564.2 )
KCNQ1 p.Phe275Ser (p.F275S) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- long QT syndrome
- Source Database
- DisGeNET
- Description
- We previously identified a missense mutation F275S located within the S5 transmembrane domain of the KCNQ1 ion channel in a Chinese family with long QT syndrome.
- Pubmed
- 19167356
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.41651083741347
- Year of publication
- 2009
Drugs