Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001012515.3:c.881T>C | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
177000.2.1 | Lebanon | Cutaneous photosensitivity; Lichenification; Abnormality of the liver | Female | Yes | Yes | |
177000.2.3 | Lebanon | Cutaneous photosensitivity; Lichenification; Abnormality of the liver | Female | Yes | Yes | Deceased sibling of 177000.2.1 |