ABCMdb

ABCC9 p.Leu1524Lys

None has been submitted yet.

Publications

PMID: 24439875 [PubMed] Hu D et al: "ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene."

No. Sentence Comment

119 Age for Dx (y/o) Gender Dx VT/VF FH a Syncope SCD Other b Name SIFT score Polyphen score Exon Change in amino acid Global MAF (1000 genome) Global MAF (ESP) 1 27 M ERS3 Y Y Y - Y - - R663C 0.02 0.99 14 c.1987C N T 0 0.000154 2 38 M ERS3 - - Y Y - - - A665T 0.57 0.002 14 c.1993G N A 0.001 N/A 3 63 M BrS + CAD - Y - Y Y ICD - N733D 0.05 0.069 16 c.2197A N G 0 0 4 20 M ERS3 + bradycardia - Y Y - Y - - V734I 0.43 0.002 17 c.2200G N A 0.005 0.009236 5 20 M ERS3 + bradycardia Y Y Y Y Y ICD, quinidine - 6 40 M ERS3 + AVB + bradycardia Y - Y Y - ICD SCN5A 7 20 M ERS2 + bradycardia - - Y - - - CACNA1C 8 25 M ERS2 - - - Y - - SCN10A V1137I 0.76 0.005 27 c.3409G N A 0.0041 0.0082 9 65 M BrS + SQTS Y - Y Y - ICD SCN10A, CACNA1C R1197C 0.05 0.999 29 c.3589C N T 0 0 10 18 M BrS + SAB - Y Y - Y - SCN5A S1402C 0 0.996 34 c.4205C N G 0 0.000077 11 39 M BrS Y - Y Y Y ICD - L1524K fs*5 N/A N/A 38 4570-4572 delTTA InsAAAT 0 0 -: No; Dx: diagnosis; VT/VF: ventricular tachycardia/ventricular fibrillation; SCD: sudden cardiac death; MAF: the minor-allele frequency; 1000 genome: the 1000 Human Genome Project Database; ESP: exome sequencing project; ERS3: early repolarization syndrome type 3; BrS: Brugada syndrome; CAD: coronary artery disease; ICD: implantable cardioverter defibrillator; AVB: atrioventricular block; ERS2: ERS type 2; SQTS: short QT syndrome; SAB: sinoatrial block. Login to comment