Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Ala341Glu (p.A341E)
(
ENST00000496887.7,
ENST00000155840.12,
ENST00000713725.1,
ENST00000646564.2,
ENST00000335475.6 )
KCNQ1 p.Ala341Gly (p.A341G) ( ENST00000496887.7, ENST00000155840.12, ENST00000713725.1, ENST00000646564.2, ENST00000335475.6 )
KCNQ1 p.Ala341Val (p.A341V) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Ala341Glu (p.A341E) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Ala341Gly (p.A341G) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Ala341Val (p.A341V) ( ENST00000646564.2, ENST00000713725.1, ENST00000155840.12, ENST00000335475.6, ENST00000496887.7 ) - Associated Disease
- Romano-Ward Syndrome
- Source Database
- DisGeNET
- Description
- The study assesses complexity of the cardiac control directed to the sinus node and to ventricles in long QT syndrome type 1 (LQT1) patients with KCNQ1-A341V mutation.
- Pubmed
- 24705789
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.573049072903183
- Year of publication
- 2014
Drugs