Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Pro448Gln (p.P448Q)
(
ENST00000713725.1,
ENST00000335475.6,
ENST00000646564.2,
ENST00000496887.7,
ENST00000155840.12 )
KCNQ1 p.Pro448Arg (p.P448R) ( ENST00000335475.6, ENST00000155840.12, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Pro448Leu (p.P448L) ( ENST00000496887.7, ENST00000155840.12, ENST00000646564.2, ENST00000335475.6, ENST00000713725.1 )
KCNQ1 p.Pro448Gln (p.P448Q) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Pro448Arg (p.P448R) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 p.Pro448Leu (p.P448L) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- Congenital long QT syndrome
- Source Database
- DisGeNET
- Description
- Given the inconsistencies between the genotype (LQT1) and clinical phenotype (LQT2) in our two LQTS families, together with the finding that the P448R appears to be a common, ethnic-specific polymorphism, mutational analysis was extended to the other LQTS-causing genes resulting in the identification of distinct HERG missense mutations in each of these two families.
- Pubmed
- 15242738
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.133029209859855
- Year of publication
- 2004
Drugs