Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000312.3:c.1198G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 612304.5.1 | United Arab Emirates | Reduced protein C activity; Visual impairment; Hypertension; Renal papillary necrosis | Male | No | Yes | Received a liver transplant from his heterozygous maternal aunt |
| 612304.5.2 | United Arab Emirates | Male | Father of 612304.5.1 | |||
| 612304.5.4 | United Arab Emirates | Female | Maternal aunt (and liver donor) of 612304.5.1 |