Female
Yes
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001814.4:c.815G>C | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
245000.6.1 | Lebanon | Palmoplantar hyperkeratosis ; Gingivitis; Periodontitis; Premature loss of teeth | Female | Yes | No | |
245000.6.2 | Lebanon | Palmoplantar hyperkeratosis ; Gingivitis; Periodontitis; Premature loss of teeth | Female | Yes | No | Sibling of 245000.6.1 |