Annotation Detail

Information
Associated Genes
TNNT2
Associated Variants
TNNT2 p.Arg104Cys (p.R104C) ( ENST00000438742.6, ENST00000455702.7, ENST00000367322.6, ENST00000367320.6, ENST00000412633.3, ENST00000509001.5, ENST00000422165.6, ENST00000367318.10, ENST00000656932.1, ENST00000658476.1, ENST00000660295.1, ENST00000714312.1, ENST00000714313.1, ENST00000714314.1, ENST00000714316.2, ENST00000714317.1 )
TNNT2 p.Ile89Asn (p.I89N) ( ENST00000412633.3, ENST00000656932.1, ENST00000455702.7, ENST00000714317.1, ENST00000660295.1, ENST00000422165.6, ENST00000509001.5, ENST00000658476.1, ENST00000367322.6, ENST00000367320.6, ENST00000714313.1, ENST00000714314.1, ENST00000714312.1, ENST00000714316.2, ENST00000438742.6, ENST00000367318.10 )
TNNT2 p.Arg104Cys (p.R104C) ( ENST00000714316.2, 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, ENST00000714317.1 )
TNNT2 p.Ile89Asn (p.I89N) ( 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
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.24
Year of publication
NA
Drugs