Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000238.4:c.3208C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
613688.4.1 | Saudi Arabia | Polymorphic ventricular tachycardia; Prolonged QT interval; Arrhythmia | Male | Yes | Yes | Proband. HIs mother had 2 miscarriages and 2 stillborns |
613688.4.3 | Saudi Arabia | Male | Father of 613688.4.1 | |||
613688.4.4 | Saudi Arabia | Female | Mother of 613688.4.1 |