Unknown
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_003322.6:c.901C>T | 4 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
613843.G.4 | Saudi Arabia | Retinal dystrophy | Unknown | Yes | Family with unknown number of affected members | |
613843.G.5 | Saudi Arabia | Rod-cone dystrophy | Unknown | No | Family with unknown number of affected members with early-onset retinitis pigmentosa | |
613843.G.6 | Saudi Arabia | Retinal dystrophy | Unknown | No | Family with unknown number of affected members | |
613843.G.7 | Saudi Arabia | Rod-cone dystrophy | Unknown | Yes | Family with unknown number of affected members. Early onset retinitis pigmentosa | |
613843.G.8 | Saudi Arabia | Rod-cone dystrophy | Unknown | Yes | Family with unknown number of affected members. Early onset retinitis pigmentosa |