614700.3.5

Country

Lebanon
Back to search Result
Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001199282.2:c.865_866delGT1

Remarks

Unaffected sister of 614700.3.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
614700.3.1LebanonRecurrent infections ; Immune dysregulationMaleYesYesProband
614700.3.2LebanonRecurrent infections ; Immune dysregulationFemaleYesYesSister of 614700.3.1
614700.3.3LebanonMaleYesYesUnaffected father of 614700.3.1
614700.3.4LebanonFemaleYesYesUnaffected mother of 614700.3.1
614700.3.6LebanonFemaleYesYesUnaffected sister of 614700.3.1
Back to search Result
© CAGS 2024. All rights reserved.