Unknown
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000518.5:c.92+5G>C | 82 | 0.541 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
613985.G.17.2 | United Arab Emirates | Anemia | Unknown | Mutations identified in 18 transfusion-dependent β-thalassaemia patients. | ||
613985.G.17.3 | United Arab Emirates | Anemia | Unknown | Mutations identified in 34 β-thalassaemia patients. |