LRG_289:g.48666G>A NG_008934.1:g.48666G>A NC_000003.12:g.38606007C>T NC_000003.11:g.38647498C>T
LRG_289p1:p.Glu428Lys LRG_289p2:p.Glu428Lys NP_000326.2:p.Glu428Lys NP_001092874.1:p.Glu428Lys NP_932173.1:p.Glu428Lys LRG_289t2:c.1282G>A Q14524:p.Glu428Lys NP_001092875.1:p.Glu428Lys NP_001153632.1:p.Glu428Lys NP_001153633.1:p.Glu428Lys NP_000326.2:p.Glu428Lys NP_932173.1:p.Glu428Lys NM_198056.3:c.1282G>A NM_000335.5:c.1282G>A NM_001099404.2:c.1282G>A NM_001099405.2:c.1282G>A NM_001160161.2:c.1282G>A NM_001099404.1:c.1282G>A NM_198056.2:c.1282G>A NM_001354701.2:c.1282G>A NM_001160160.2:c.1282G>A NP_001341630.1:p.Glu428Lys LRG_289t1:c.1282G>A NM_000335.4:c.1282G>A More...
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04/06/2021 |
missense|missense variant |
pathogenic|uncertain significance|not provided |
Atrial fibrillation, familial, 10; Cardiac conduction defect progressive; Cardiac rhythm disease; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA; Dilated cardiomyopathy 1E; Heart block progressive familial type 1; HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I; Heart block, progressive, type IA; Hereditary bundle branch system defect; Long QT syndrome 3; none provided; Progressive familial heart block, type 1A; PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; Right bundle branch block, ST segment elevation, and sudden death syndrome; SCN5A-Associated Dilated Cardiomyopathy; SICK SINUS SYNDROME 1; Sick sinus syndrome 1, autosomal recessive; SICK SINUS SYNDROME, CONGENITAL; SINUS BRADYCARDIA SYNDROME, FAMILIAL; SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL RECESSIVE; SINUS RHYTHM, CONGENITAL ABSENCE OF; Sudden Infant Death; SUDDEN INFANT DEATH SYNDROME; Ventricular fibrillation, paroxysmal familial, type 1 |