Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_005630.2:c.838C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
601460.1.2 | Lebanon | Clubbing of fingers ; Thickened skin ; Arthralgia | Unknown | Yes | Sibling of 601460.1.1 | |
601460.1.3 | Lebanon | Female | Yes | Unaffected mother of 601460.1.1 |