Unknown
No
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 |
---|---|---|---|---|---|---|
610356.1 | Saudi Arabia | Cone/cone-rod dystrophy; Reduced visual acuity; Color vision defect | Male |