Unknown
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_016247.4:c.2274G>A | 4+ |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
613581.G.2 | Saudi Arabia | Retinal dystrophy | Unknown | Yes | Family with unknown number of affected members | |
613581.G.3 | Saudi Arabia | Rod-cone dystrophy | Unknown | Yes | Family with unknown number of affected members |