Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_002225.5:c.1172G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 243500.1.1 | Saudi Arabia | Acidosis; Episodic vomiting; Lethargy | Male | Yes | Yes | Index patient |
| 243500.1.3 | Saudi Arabia | Acidosis; | Yes | Yes | Sibling of 243500.1.1 | |
| 243500.1.4 | Saudi Arabia | Male | Yes | Father of 243500.1.1 | ||
| 243500.1.5 | Saudi Arabia | Female | Yes | Mother of 243500.1.1 | ||
| 243500.1.6 | Saudi Arabia | Unknown | Yes | Yes | Sibling of 243500.1.1 |