Unknown
No
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001281723.3:c.364C>A | 1 | |||
| NM_001281723.3:c.1224C>T | 1 | |||
| NM_001281723.3:c.1429C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 253260.2.1 | Somalia | Irritability; Vomiting; Gastroparesis | Unknown | No | No | |
| 253260.2.3 | Somalia | Asymptomatic | Unknown | No | Yes | |
| 253260.2.4 | Somalia | Asymptomatic | Unknown | No | No |