Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Arg397Gly (p.R397G)
(
ENST00000713725.1,
ENST00000646564.2,
ENST00000335475.6,
ENST00000496887.7,
ENST00000155840.12 )
KCNQ1 p.Arg397Trp (p.R397W) ( ENST00000155840.12, ENST00000496887.7, ENST00000646564.2, ENST00000335475.6, ENST00000713725.1 )
KCNQ1 p.Arg397Gly (p.R397G) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Arg397Trp (p.R397W) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- long QT syndrome
- Source Database
- DisGeNET
- Description
- Both KV7.1-A283T (16-week male) and KV7.1-R397W (16-week female) mutations were associated with marked KV7.1 loss-of-function consistent with in utero LQTS type 1, whereas the HERG1b-R25W mutation (33.2-week male) exhibited a loss of function consistent with in utero LQTS type 2.
- Pubmed
- 23571586
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.41651083741347
- Year of publication
- 2013
Drugs