Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
KCNQ1 p.Phe157Cys (p.F157C)
(
ENST00000713725.1,
ENST00000646564.2,
ENST00000335475.6,
ENST00000155840.12,
ENST00000496887.7 )
KCNH2 p.Gly572Cys (p.G572C) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly572Arg (p.G572R) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly572Ser (p.G572S) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNQ1 p.Phe157Cys (p.F157C) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNH2 p.Gly572Cys (p.G572C) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly572Arg (p.G572R) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 )
KCNH2 p.Gly572Ser (p.G572S) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- long QT syndrome
- Source Database
- DisGeNET
- Description
- The sensitivity of the method was 100% when 34 different point mutations were analyzed, including two previously unpublished LQTS-associated mutations (F157C in KVLQT1 and G572R in HERG), as well as eight novel normal variants in HERG and MYH7.
- Pubmed
- 10220146
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 1999
Drugs