Annotation

Position
chr12 : 2224456
Genotype
C/T
Gene

HGVS DNA code
NM_001129830.2:c.116C>T
HGVS protein code
OMIM-ID
MutationTaster

Author:
ClinVar  
Text:
Brugada syndrome is characterized by cardiac conduction abnormalities (ST-segment abnormalities in leads V1-V3 on ECG and a high risk for ventricular arrhythmias) that can result in sudden death. Brugada syndrome presents primarily during adulthood; although age at diagnosis ranges from two days to 85 years. The mean age of sudden death is approximately 40 years. Clinical presentations may also include sudden infant death syndrome (SIDS; death of a child during the first year of life without an identifiable cause) and the sudden unexpected nocturnal death syndrome (SUNDS), a typical presentation in individuals from Southeast Asia. Other conduction defects can include first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome.
Created at August 08, 2015 14:11, Last update August 08, 2015 14:11
Voting
Pathogenic
Clinical significance
Pathogenic
Votes
StarsClinical significance
53 votes
40 votes
30 votes
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10 votes

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