Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000312.3:c.1238_1241delCCTG | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
612304.1.2 | Saudi Arabia | Female | Mother of 612304.1.1 |