Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Thr322Ala (p.T322A)
(
ENST00000713725.1,
ENST00000335475.6,
ENST00000646564.2,
ENST00000496887.7,
ENST00000155840.12 )
KCNQ1 p.Thr322Lys (p.T322K) ( ENST00000713725.1, ENST00000646564.2, ENST00000335475.6, ENST00000155840.12, ENST00000496887.7 )
KCNQ1 p.Thr322Arg (p.T322R) ( ENST00000335475.6, ENST00000646564.2, ENST00000713725.1, ENST00000496887.7, ENST00000155840.12 )
KCNQ1 p.Thr322Met (p.T322M) ( ENST00000335475.6, ENST00000155840.12, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly325Arg (p.G325R) ( ENST00000155840.12, ENST00000335475.6, ENST00000646564.2, ENST00000496887.7, ENST00000713725.1 )
KCNQ1 p.Thr322Ala (p.T322A) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Thr322Lys (p.T322K) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Thr322Arg (p.T322R) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Thr322Met (p.T322M) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly325Arg (p.G325R) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- cardiac event
- Source Database
- DisGeNET
- Description
- Extensive genotype-phenotype analyses of LQT1 patients showed that T322M-, T322A-, or G325R-Kv7.1 confers a high risk for LQT1-related cardiac events.
- Pubmed
- 23092362
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00732893054616819
- Year of publication
- 2012
Drugs