Unknown
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000554.6:c.274G>A | 2+ |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 268000.G.1 | Saudi Arabia | Rod-cone dystrophy | Unknown | Yes | Family with unknown number of affected members | |
| 268000.G.2 | Saudi Arabia | Rod-cone dystrophy | Unknown | Yes | Family with unknown number of affected members | |
| 268000.G.4 | Saudi Arabia | Retinal dystrophy | Unknown | Yes | Family with unknown number of affected members | |
| 268000.G.5 | Saudi Arabia | Rod-cone dystrophy | Unknown | Yes | Family with unknown number of affected members | |
| 268000.G.6 | Saudi Arabia | Rod-cone dystrophy | Unknown | No | Family with unknown number of affected members | |
| 268000.G.7 | Saudi Arabia | Rod-cone dystrophy | Unknown | No | Family with unknown number of affected members | |
| 268000.G.8 | Saudi Arabia | Rod-cone dystrophy | Unknown | No | Family with unknown number of affected members | |
| 268000.G.9 | Saudi Arabia | Rod-cone dystrophy | Unknown | No | Group of 4 family members | |
| 268000.G.10 | Saudi Arabia | Rod-cone dystrophy; Decreased circulating antibody concentration | Unknown | No | 2 siblings. While the variant is predicted to result in a synonymous change, it affects the last base pair of exon 9, making it likely that it affects splicing by abolishing the donor site. "RT-PCR using RNA extracted from lymphoblastoid cells from these two siblings confirmed the skipping of exon 9". |