current
ABCC9:c.4537G>A (p.Ala1513Thr) AND Dilated cardiomyopathy 1O
current
classified by single submitter
Pathogenic
germline
human
not provided
curation
In a 40-year-old woman with dilated cardiomyopathy with ventricular tachycardia (608569), Bienengraeber et al. (2004) identified a G-to-A transition at nucleotide 4537 of the ABCC9 gene, resulting in an alanine-to-threonine substitution at codon 1513 (A1513T). The patient's father died at age 55 of heart failure. The mutation was not present in the patient's mother, suggesting inheritance from the affected father. This mutation was not identified in 500 unrelated control individuals.
15034580
ABCC9:c.4537G>A (p.Ala1513Thr)
LRG_377t1:c.4537G>A
NM_020297.2:c.4537G>A
LRG_377:g.140538G>A
NG_012819.1:g.140538G>A
NC_000012.11:g.21954091C>T
NP_064693.2:p.Ala1513Thr
missense
A1513T
ALA1513THR
12p12.1
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABCC9
Dilated cardiomyopathy 1O
CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA
CMD1O
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 .
Variable
1-5 / 10 000
20301486
current
Pathogenic
germline
human
not provided
curation
In a 40-year-old woman with dilated cardiomyopathy with ventricular tachycardia (608569), Bienengraeber et al. (2004) identified a G-to-A transition at nucleotide 4537 of the ABCC9 gene, resulting in an alanine-to-threonine substitution at codon 1513 (A1513T). The patient's father died at age 55 of heart failure. The mutation was not present in the patient's mother, suggesting inheritance from the affected father. This mutation was not identified in 500 unrelated control individuals.
15034580
ABCC9, ALA1513THR
ALA1513THR
ABCC9
CARDIOMYOPATHY, DILATED, 1O