Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Arg583Cys (p.R583C)
(
ENST00000155840.12,
ENST00000526095.2,
ENST00000496887.7,
ENST00000713725.1,
ENST00000646564.2,
ENST00000335475.6 )
KCNQ1 p.Arg583Cys (p.R583C) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000526095.2, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs