current
TNNT2:c.248A>G (p.Asn83Ser) AND Primary dilated cardiomyopathy
current
classified by single submitter
probably pathogenic
Autosomal dominant inheritance
germline
human
unknown
assert pathogenicity
sanger sequencing
clinical testing
TNNT2:c.248A>G (p.Asn83Ser)
c.218A>G
NM_001001430.2:c.218A>G
NM_000364.3:c.248A>G
NG_007556.1:g.17022A>G
NC_000001.10:g.201334784T>C
NM_001001430.1:c.218A>G
NP_001001430.1:p.Asn73Ser
NP_000355.2:p.Asn83Ser
NM_001001430.1:EXON 8
N73S
N83S
1q32.1
troponin T type 2 (cardiac)
TNNT2
Primary dilated cardiomyopathy
CARDIOMYOPATHY, CONGESTIVE
Cardiomyopathy, Dilated
DCM
Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following: Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion). Arrhythmias and/or conduction system disease. Thromboembolic disease (from left ventricular mural thrombus) including stroke .
Autosomal dominant inheritance
Various modes of inheritance
20301486
16839424
current
classified by single submitter
probably pathogenic
Autosomal dominant inheritance
germline
human
unknown
assert pathogenicity
sanger sequencing
clinical testing
c.218A>G
NM_001001430.1:EXON 8
NM_001001430.1:c.218A>G
TNNT2
Dilated cardiomyopathy