Annotation

Position
chr12 : 98928103
Genotype
C/T
Gene

HGVS DNA code
NM_001032283.2:c.565+2487C>T
HGVS protein code
OMIM-ID
MutationTaster

Author:
ClinVar  
Text:
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 .
Created at August 08, 2015 14:24, Last update August 08, 2015 14:24
Voting
Pathogenic
Clinical significance
Pathogenic
Votes
StarsClinical significance
53 votes
40 votes
30 votes
20 votes
10 votes

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