Female
No
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001013703.4:c.1671A>G | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
234810.2.2 | Lebanon | Exertional dyspnea; Pulmonary arterial hypertension | Female | Yes | No | Brother of 234810.2.1 |
234810.2.3 | Lebanon | Female | Daughter of 234810.2.1 | |||
234810.2.4 | Lebanon | Male | Nephew of 234810.2.1, Son of 234810.2.2 | |||
234810.2.5 | Lebanon | Female | Niece of 234810.2.1, Daughter of 234810.2.2 |