Unknown
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000050.4:c.1168G>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
215700.1.2 | Morocco | Hyperphenylalaninemia | Male | Yes | Yes | Brother of 215700.1.1, case 2 in the publication. Patient is also compound heterozygous for IVS10-H100R mutation in the PAH gene. |