Female
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_014249.4:c.119-2A>C | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
268100.5.1 | Palestine | Retinal dystrophy | Female | No | Yes | |
268100.5.2 | Palestine | Male | No | Yes | Unaffected brother of 268100.5.1 | |
268100.5.3 | Palestine | Male | No | Unaffected father of 268100.5.1 |