Female
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000159.4:c.914C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 231670.9.2 | Palestine | Male | No | Father of 231670.9.1 | ||
| 231670.9.3 | Palestine | Female | No | Mother of 231670.9.1 |