614021.1.1

Country

Sudan

HPO Terms

Cardiac arrest; Arrhythmia; Prolonged QT interval; Ventricular fibrillation; Tachycardia; Bidirectional ventricular ectopy
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001010874.5:c.331+1G>A2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
614021.1.2SudanSudden cardiac death; Syncope; Prolonged QT interval; Ventricular arrhythmiaMaleYesYesBrother of 614021.1.1
614021.1.3SudanSudden cardiac deathFemaleYesYesDouble first cousin of 614021.1.1
614021.1.4SudanDeath in childhood; Ventricular tachycardia; Prolonged QT interval; Polymorphic and polytopic ventricular extrasystoles; Vegetative stateMaleYesYesDouble first cousin of 614021.1.1
614021.1.5SudanSudden cardiac death; Ventricular septal defectFemaleYesYesDouble first cousin of 614021.1.1
614021.1.6SudanVentricular arrhythmiaMaleYesYesDouble first cousin of 614021.1.1
614021.1.G.1SudanHeterozygous members belonging to the family of 614021.1.1. [Proband's parents, aunt, uncle, sister and cousin]
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