Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Gly269Ser (p.G269S)
(
ENST00000335475.6,
ENST00000496887.7,
ENST00000155840.12,
ENST00000646564.2,
ENST00000713725.1 )
KCNQ1 p.Gly269Arg (p.G269R) ( ENST00000496887.7, ENST00000155840.12, ENST00000335475.6, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly269Ser (p.G269S) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly269Arg (p.G269R) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- Syncope
- Source Database
- DisGeNET
- Description
- Although G269S in the KVLQT1 gene was detected in a female with known family history of syncope and sudden cardiac death, no other mutations were found in any of the 14 cases, and no other mutations was found in 200 controls.
- Pubmed
- 16436635
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00962001765464952
- Year of publication
- 2006
Drugs