Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000821.6:c.1502G>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 277450.2.2 | Lebanon | Female | Sister of 277450.2.1 | |||
| 277450.2.3 | Lebanon | Female | Mother of 277450.2.1 | |||
| 277450.2.4 | Lebanon | Male | Father of 277450.2.1 | |||
| 277450.2.5 | Lebanon | Male | Paternal grandmother of 277450.2.1 | |||
| 277450.2.6 | Lebanon | Female | Maternal grandfather of 277450.2.1 |