Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Trp304Arg (p.W304R)
(
ENST00000496887.7,
ENST00000155840.12,
ENST00000646564.2,
ENST00000335475.6,
ENST00000713725.1 )
KCNQ1 p.Gly589Asp (p.G589D) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000526095.2, ENST00000646564.2, ENST00000713725.1 )
KCNH2 p.Leu552Ser (p.L552S) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg176Trp (p.R176W) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 )
KCNQ1 p.Trp304Arg (p.W304R) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Gly589Asp (p.G589D) ( ENST00000335475.6, ENST00000155840.12, ENST00000496887.7, ENST00000526095.2, ENST00000646564.2, ENST00000713725.1 )
KCNH2 p.Leu552Ser (p.L552S) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Arg176Trp (p.R176W) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- Acquired long QT syndrome
- Source Database
- DisGeNET
- Description
- DNA samples were screened for the four common Finnish founder mutations (KCNQ1 G589D and IVS7-2A-->G, HERG L552S, and R176W), which are known to account for the majority of inherited LQTS in Finland.
- Pubmed
- 17467628
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2007
Drugs