613985.G.17.2

Country

United Arab Emirates

HPO Terms

Anemia

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000518.5:c.25_26delNA0.043
NM_000518.5:c.92+5G>C180.541
NM_000518.5:c.92+6T>CNA0.038

Remarks

Mutations identified in 18 transfusion-dependent β-thalassaemia patients.

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
613985.G.17.1United Arab EmiratesAnemiaUnknown41 transfusion-dependent β-thalassaemia patients.
613985.G.17.3United Arab EmiratesAnemiaUnknownMutations identified in 34 β-thalassaemia patients.
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