Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001319138.2:c.1285T>C | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
207000.1.5 | Saudi Arabia | Female | Yes | Unaffected mother of 200700.1.1 | ||
207000.1.7 | Saudi Arabia | Female | Yes | Unaffected mother of 200700.1.3 |