Unknown
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000329.3:c.131G>A | 4+ |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
613794.G.2 | Saudi Arabia | Retinal dystrophy | Unknown | No | Family with unknown number of affected members |