235400.1.1

Country

Palestine

HPO Terms

Deceased; Complement deficiency; Hemolytic anemia; Renal insufficiency
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000186.4:c.3572C>T2

Remarks

Patient belongs to an extended, large, highly-consanguineous Bedouin family with 10 deceased affected members

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
235400.1.2PalestineComplement deficiency; Hemolytic anemia; Renal insufficiencyFemaleYesYesSecond cousin of 235400.1.1
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