Unknown
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_004453.4:c.807A>C | 8 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
231680.G.2 | United Arab Emirates | Elevated circulating glutaric acid concentration | Unknown | Mutations identified in two Emiratis |