Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_006269.2:c.606C>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
180100.2.1 | Saudi Arabia | Rod-cone dystrophy | Female | Yes | Yes | |
180100.2.2 | Saudi Arabia | Rod-cone dystrophy | Female | Yes | Yes | Sister of 180100.2.1 |
180100.2.3 | Saudi Arabia | Rod-cone dystrophy | Female | Yes | Yes | Sister of 180100.2.1 |