Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000186.4:c.3572C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 235400.1.1 | Palestine | Deceased; Complement deficiency; Hemolytic anemia; Renal insufficiency | Male | Yes | Yes | Patient belongs to an extended, large, highly-consanguineous Bedouin family with 10 deceased affected members |