Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000277.3:c.168+5G>C |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
261600.G.1 | United Arab Emirates | Yes | Seven patients from four families | |||
261600.G.5 | United Arab Emirates | Yes | Emirati patient(s) with PKU. Number of patient(s) not known. | |||
261600.G.7 | United Arab Emirates | Yes | Emirati patient(s) with PKU. Number of patient(s) not known. | |||
261600.G.8 | United Arab Emirates | Yes | Emirati patient(s) with PKU. Number of patient(s) not known. |