Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_058172.5:c.1340delC | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
228600.2.1 | Egypt | Gingival fibromatosis; Fibrous dysplasia of the bones | Male | Yes | Yes | Sibling of 228600.2.2 & 228600.2.3 |
228600.2.2 | Egypt | Gingival fibromatosis; Fibrous dysplasia of the bones | Male | Yes | Yes | Sibling of 228600.2.1 & 228600.2.3 |