Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_014249.4:c.119-2A>C | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
268100.4.2 | Palestine | Retinal dystrophy | Female | Yes | Yes | Sister of 268100.4.1 |