NM_000518.5:c.93-21_96del

HGVS Expressions

  • NG_059281.1:g.5252_5276del
  • NM_000518.5:c.93-21_96del
  • NP_000509.1:p.?
  • NC_000011.10:g.5226796_5226820del

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Deletion

Clinvar

632854

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.31United Arab Emirates10.062PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
603903.G.2.3United Arab Emirates40.062PathogenicBeta-ThalassemiaBaysal, 2005 4 patients with sickle beta thalassemia....
603903.G.3.1Arab; United Arab Emirate...NANAPathogenicBeta-ThalassemiaEl-Kalla and Baysal, 1998 Mutations identified in 29 patients with...
613985.G.1.1Lebanon10.009PathogenicBeta-ThalassemiaZahed et al, 1997 Unknown number of patients with beta-zer...
613985.G.2.1Saudi ArabiaNAPathogenicBeta-Thalassemiael-Hazmi et al, 1995 Beta-thalassemia mutations observed in 7...
613985.G.3.2Lebanon20.004PathogenicBeta-ThalassemiaMakhoul et al. 2005 Patients with beta-zero-thalassemia from...
613985.G.5Bahrain36.1PathogenicBeta-ThalassemiaJassim et al. 1998 Mutations identified in a study group of...
613985.G.9.1KuwaitLikely Pathogenic, PathogenicBeta-ThalassemiaAdekile et al. 1994 Mutations identified in 41 unrelated Kuw...
613985.G.15.1Oman2PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutations identified in Omani β-thalassa...
613985.G.16United Arab Emirates24NALikely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutations identified in 137 Emirati β-th...
613985.G.17.3United Arab Emirates120.065Likely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1993 Mutations identified in 34 β-thalassaemi...
613985.G.18United Arab Emirates40.08Likely PathogenicBeta-ThalassemiaQuaife et al. 1994 Mutations identified in 27 families comp...
613985.G.21.4United Arab Emirates100.039PathogenicBeta-Thalassemia 5 β-thalassaemia patients
613985.G.22.1United Arab Emirates180.062PathogenicBeta-ThalassemiaBaysal, 2005 Homozygous β-thalassemia mutations repor...
613985.G.22.2United Arab Emirates100.062Likely PathogenicBeta-ThalassemiaBaysal, 2005 10 patients with β-thalassemia. All pati...
613985.G.22.5United Arab Emirates40.062PathogenicBeta-ThalassemiaBaysal, 2005 4 patients with β-thalassemia. All patie...
613985.G.22.10United Arab Emirates20.062PathogenicBeta-ThalassemiaBaysal, 2005 2 patients with β-thalassemia. Both pati...
613985.G.23.1United Arab Emirates710.09PathogenicBeta-ThalassemiaBaysal. 2011; Baysal 2017 412 Emirati patients with beta thalassem...
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