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
- Congenital long QT syndrome
- Source Database
- DisGeNET
- Description
- The genetic spectrum of LQTS in 44 South African cLQTS patients (23 known to carry the South African founder mutation p.A341V in KCNQ1) was established by screening for mutations in the coding regions of KCNQ1, KCNH2, KCNE1, KCNE2 and SCN5A, the most frequently implicated cLQTS-causing genes (five-gene screening).
- Pubmed
- 24217263
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.133029209859855
- Year of publication
- 2013
Drugs