LRG_289t1:c.1333C>G LRG_289:g.48717C>G NG_008934.1:g.48717C>G NC_000003.12:g.38605956G>C
NC_000003.11:g.38647447G>C LRG_289p1:p.His445Asp NP_000326.2:p.His445Asp NP_001092874.1:p.His445Asp NP_932173.1:p.His445Asp Q14524:p.His445Asp NP_001092875.1:p.His445Asp NP_932173.1:p.His445Asp NM_001160161.2:c.1333C>G NM_000335.5:c.1333C>G NM_001099404.2:c.1333C>G NM_001099405.2:c.1333C>G NM_198056.3:c.1333C>G NM_198056.2:c.1333C>G NM_001354701.2:c.1333C>G NP_001153632.1:p.His445Asp NP_001153633.1:p.His445Asp NP_001341630.1:p.His445Asp NM_001160160.2:c.1333C>G More...
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02/26/2020 |
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; 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 |