Unknown
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000350.3:c.2294G>A | 4+ |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 248200.G.1 | Saudi Arabia | Visual impairment | Unknown | Yes | No | 3 members of a family |
| 248200.G.5 | Saudi Arabia | Macular degeneration; Reduced visual acuity | Unknown | Patient(s) from 'family 22' in the publication | ||
| 248200.G.6 | Saudi Arabia | Macular degeneration; Reduced visual acuity | Unknown | Patient(s) from 'family 23' in the publication | ||
| 248200.G.7 | Saudi Arabia | Macular degeneration; Reduced visual acuity | Unknown | Patient(s) from 'family 25' in the publication | ||
| 248200.G.8 | Saudi Arabia | Macular degeneration; Reduced visual acuity | Unknown | Patient(s) from 'family 27' in the publication | ||
| 248200.G.9 | Saudi Arabia | Macular degeneration; Reduced visual acuity | Unknown | Patient(s) from 'family 28' in the publication | ||
| 248200.G.10 | Saudi Arabia | Macular degeneration; Reduced visual acuity | Unknown | Patient(s) from 'family 31' in the publication |