Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_133497.4:c.427G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610356.2.1 | United Arab Emirates | Cone dystrophy | Male | Yes | Yes | |
| 610356.2.2 | United Arab Emirates | Cone dystrophy | Female | Yes | Yes | First cousin of 610356.2.1 |
| 610356.2.3 | United Arab Emirates | Cone dystrophy | Male | Yes | Yes | First cousin of 610356.2.1 Sibling of 610356.2.2 |
| 610356.2.4 | United Arab Emirates | Cone dystrophy | Female | Yes | Yes | First cousin of 610356.2.1 Sibling of 610356.2.2 |
| 610356.2.6 | United Arab Emirates | Cone dystrophy | Female | Yes | Yes | Daughter of 610356.2.1 |
| 610356.2.7 | United Arab Emirates | Cone dystrophy | Female | Yes | Yes | Daughter of 610356.2.1 |