Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004646.3:c.1317T>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 256300.1.1 | Lebanon | Atrial septal defect ; Ascites ; Nephrotic syndrome ; Death in infancy | Female | Yes | Yes | While the homozygous mutation led to congenital nephrotic syndrome and early neonatal death, the heterozygous form of the mutation in this family was found to be associated with aortic stenosis. |
| 256300.1.3 | Lebanon | Nephrotic syndrome ; Death in infancy | Male | Yes | Yes | Brother of 256300.1.1 |
| 256300.1.4 | Lebanon | Nephrotic syndrome ; Death in infancy | Male | Yes | Yes | Brother of 256300.1.1 |
| 256300.1.5 | Lebanon | Coarctation of aorta ; Aortic valve stenosis | Male | Yes | Yes | Brother of 256300.1.1 |
| 256300.1.6 | Lebanon | Aortic valve stenosis | Male | Yes | Father of 256300.1.1 | |
| 256300.1.7 | Lebanon | Female | Yes | Mother of 256300.1.1 |