Annotation Detail
Information
- Associated Genes
- TNNT2
- Associated Variants
-
TNNT2 p.Arg288Cys (p.R288C)
(
ENST00000509001.5,
ENST00000422165.6,
ENST00000367322.6,
ENST00000658476.1,
ENST00000367320.6,
ENST00000412633.3,
ENST00000656932.1,
ENST00000660295.1,
ENST00000455702.7,
ENST00000714317.1,
ENST00000714316.2,
ENST00000367318.10,
ENST00000438742.6,
ENST00000714314.1,
ENST00000714313.1,
ENST00000714312.1 )
TNNT2 p.Arg288Cys (p.R288C) ( ENST00000367318.10, ENST00000367320.6, ENST00000367322.6, ENST00000412633.3, ENST00000422165.6, ENST00000438742.6, ENST00000455702.7, ENST00000509001.5, ENST00000656932.1, ENST00000658476.1, ENST00000660295.1, ENST00000714312.1, ENST00000714313.1, ENST00000714314.1, ENST00000714316.2, ENST00000714317.1 ) - Associated Disease
- hypertrophic cardiomyopathy
- Source Database
- DisGeNET
- Description
- We studied the TNNT2 gene in 127 patients with hypertrophic cardiomyopathy and identified three mutations in patients from four families (3.1%): the Phe87Leu mutation, which has not been previously reported, the Arg278Cys mutation (two families) and the Asp271Ile mutation.
- Pubmed
- 20038417
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.155829122202842
- Year of publication
- 2009
Drugs