LRG_289t1:c.5812G>A LRG_289:g.104113G>A NG_008934.1:g.104113G>A NC_000003.12:g.38550560C>T
NC_000003.11:g.38592051C>T LRG_289p1:p.Glu1938Lys NP_000326.2:p.Glu1937Lys NP_001092874.1:p.Glu1938Lys NP_932173.1:p.Glu1938Lys Q14524:p.Glu1938Lys NM_198056.3:c.5812G>A NP_932173.1:p.Glu1938Lys NP_001153633.1:p.Glu1884Lys NP_001153632.1:p.Glu1905Lys NP_001341630.1:p.Glu1919Lys NM_001354701.2:c.5755G>A NM_001160160.2:c.5713G>A NP_001092875.1:p.Glu1920Lys NM_001160161.2:c.5650G>A NM_001099405.2:c.5758G>A NM_000335.5:c.5809G>A NM_001099404.2:c.5812G>A NM_198056.2:c.5812G>A More...
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11/01/2019 |
missense|missense variant |
pathogenic|conflicting interpretations of pathogenicity|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; Sudden unexpected nocturnal death syndrome; Sudden Unexplained Death Syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Nocturnal Death Syndrome (SUNDS); Ventricular fibrillation, paroxysmal familial, type 1 |