Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001010874.5:c.331+1G>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
614021.1.1 | Sudan | Cardiac arrest; Arrhythmia; Prolonged QT interval; Ventricular fibrillation; Tachycardia; Bidirectional ventricular ectopy | Male | Yes | Yes | |
614021.1.2 | Sudan | Sudden cardiac death; Syncope; Prolonged QT interval; Ventricular arrhythmia | Male | Yes | Yes | Brother of 614021.1.1 |
614021.1.3 | Sudan | Sudden cardiac death | Female | Yes | Yes | Double first cousin of 614021.1.1 |
614021.1.5 | Sudan | Sudden cardiac death; Ventricular septal defect | Female | Yes | Yes | Double first cousin of 614021.1.1 |
614021.1.6 | Sudan | Ventricular arrhythmia | Male | Yes | Yes | Double first cousin of 614021.1.1 |
614021.1.G.1 | Sudan | Heterozygous members belonging to the family of 614021.1.1. [Proband's parents, aunt, uncle, sister and cousin] |