Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_016464.5:c.128+5G>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
614465.9.2 | United Arab Emirates | Male | Father of 614465.9.1 | |||
614465.9.3 | United Arab Emirates | Female | Mother of 614465.9.1 |