Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001042492.2:c.1846del | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
162200.9.1 | United Arab Emirates | Cafe-au-lait spot | Female | Yes | Yes | Proband |
162200.9.3 | United Arab Emirates | Cafe-au-lait spot | Female | Yes | Yes | Mother of 162200.9.1 |