NC_000016.10:g.173384_177187del

HGVS Expressions

  • NG_000006.1:g.34164_37967del
  • NC_000016.10:g.173384_177187del
  • NC_000016.10:g.173384_177187del
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

Variant Type

Deletion

Clinvar

38636

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604131.5Yemen1PathogenicAlpha-ThalassemiaOron-Karni et al. 1997 Patient of Yemeni-Jewish origin
604131.9.1Lebanon1PathogenicAlpha-ThalassemiaInati et al. 2013 Proband exhibited two HBA2 and one HBB v...
604131.9.2Lebanon1PathogenicAlpha-ThalassemiaInati et al. 2013 Brother of 604131.9.1. Exhibited two HBA...
604131.9.4Lebanon1PathogenicAlpha-ThalassemiaInati et al. 2013 Mother of 604131.9.1.
604131.11.2United Arab Emirates1Likely PathogenicAlpha-ThalassemiaEl-Kalla and Baysal, 1998 Identified through testing 418 consecuti...
604131.11.5United Arab Emirates1Likely PathogenicAlpha-ThalassemiaEl-Kalla and Baysal, 1998 Identified through testing 418 consecuti...
613978.1.1Oman1Likely PathogenicHemoglobin H DiseaseEl-Kalla and Baysal, 1998
613978.1.2Sudan1Likely PathogenicHemoglobin H DiseaseEl-Kalla and Baysal, 1998
141850.G.1Lebanon10Farra et al. 2015 12 Lebanese newborns
603903.G.1Bahrain4NAUncertain SignificanceJassim and Al Arrayed, 2006 Two patients from two unrelated families...
603903.G.3.3Arab; United Arab Emirate...31NAUncertain SignificanceEl-Kalla and Baysal, 1998 25 patients with sickle cell anemia. Pat...
604131.11.G.1United Arab Emirates4Likely PathogenicAlpha-ThalassemiaEl-Kalla and Baysal, 1998 4 compound heterozygotes identified thro...
604131.11.G.4United Arab Emirates140Likely PathogenicEl-Kalla and Baysal, 1998 140 heterozygotes identified through tes...
604131.11.G.5United Arab Emirates92Likely PathogenicAlpha-ThalassemiaEl-Kalla and Baysal, 1998 46 homozygotes identified through testin...
604131.G.1Algeria2+PathogenicAlpha-ThalassemiaMorle et al. 1984 A large consanguineous Algerian family w...
604131.G.2Saudi Arabia14PathogenicAlpha-ThalassemiaEl-Hazmi, 1986 Four homozygotes and 6 heterozygotes
604131.G.3LebanonPathogenicAlpha-ThalassemiaFarra et al. 2015 12 Lebanese patients
604131.G.6United Arab Emirates4NAPathogenicAlpha-ThalassemiaTurner et al. 2014 4 patients (2 males and 2 females)
613978.1.G.4United Arab Emirates9Likely PathogenicHemoglobin H DiseaseEl-Kalla and Baysal, 1998 9 Emirati patients
613978.1.G.5United Arab Emirates3Likely PathogenicHemoglobin H DiseaseEl-Kalla and Baysal, 1998 3 Emirati patients
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