Annotation Detail

Information
Associated Genes
KCNH2
Associated Variants
KCNH2 p.Leu1045Phe (p.L1045F) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Leu1045Phe (p.L1045F) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
Associated Disease
Cardiomyopathy, Dilated
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.12027144187208
Year of publication
NA
Drugs