Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_153717.3:c.1813C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
225500.3.2 | Sudan | Male | Yes | Yes | Father of 225500.3.1 | |
225500.3.3 | Sudan | Female | Yes | Yes | Mother of 225500.3.1 |