Female
No
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_147127.5:c.2047-1G>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
225500.4.2 | United Arab Emirates; Yemen | Male | No | Yes | Father of 225500.4.1 | |
225500.4.3 | United Arab Emirates; Yemen | Female | No | Yes | Mother of 225500.4.1 |