192500.4

Country

Lebanon

HPO Terms

Torsade de pointes; Syncope; Anemia; Deep venous thrombosis; Type II diabetes mellitus
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Sex

Female

Family History

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000218.3:c.1591C>T1
NM_000238.4:c.967G>A

Remarks

Patient has long-standing β-thalessemia major
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