Annotation Detail
Information
- Associated Genes
- TNNI3
- Associated Variants
-
TNNI3 p.Asn185Lys (p.N185K)
(
ENST00000344887.10,
ENST00000588882.1,
ENST00000665070.1,
ENST00000714236.1,
ENST00000714237.1,
ENST00000714238.1,
ENST00000714240.1 )
TNNI3 p.Lys36Gln (p.K36Q) ( ENST00000344887.10, ENST00000665070.1, ENST00000714236.1, ENST00000714237.1, ENST00000714238.1 )
TNNI3 p.Asn185Lys (p.N185K) ( ENST00000344887.10, ENST00000588882.1, ENST00000665070.1, ENST00000714236.1, ENST00000714237.1, ENST00000714238.1, ENST00000714240.1 )
TNNI3 p.Lys36Gln (p.K36Q) ( ENST00000344887.10, ENST00000665070.1, ENST00000714236.1, ENST00000714237.1, ENST00000714238.1 ) - Associated Disease
- Cardiomyopathy, Familial Idiopathic
- Source Database
- DisGeNET
- Description
- We report 2 novel TNNI3 missense mutations, Lys36Gln and Asn185Lys, each associated with severe and early onset familial DCM.
- Pubmed
- 19590045
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00345279946692324
- Year of publication
- 2009
Drugs