Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000520.5:c.805G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 272800.1.1 | Iraq | Male | Yes | Yes | ||
| 272800.1.2 | Iraq | Female | Yes | Yes | First degree cousin of 272800.1.1 | |
| 272800.1.3 | Iraq | Male | Maternal uncle of 272800.1.1 | |||
| 272800.1.4 | Iraq | Male | Yes | Father of 272800.1.1 | ||
| 272800.1.5 | Iraq | Female | Yes | Mother of 272800.1.1 |