Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_020166.5:c.1267+3A>C | NA | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 210200.G.2 | Jordan | Hypoglycemia; Episodic metabolic acidosis | Unknown | Mutations identified in unknown number of Emiratis | ||
| 210200.G.4 | Jordan | Hypoglycemia; Episodic metabolic acidosis | Unknown | UAE resident(s) of Sudanese origin. Number of patient(s) unknown. These patients also have 519bp deletion in MCCC1 gene. |