NM_000518.5:c.17_18del

HGVS Expressions

  • NG_059281.1:g.5067_5068del
  • NM_000518.5:c.17_18del
  • NP_000509.1:p.Pro6ArgfsTer17
  • NC_000011.10:g.5227004_5227005del

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Deletion

Clinvar

15422

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
603903.1United Arab Emirates10.016PathogenicBeta-ThalassemiaBaysal, 2005 Patient with sickle beta thalassemia. Pa...
613985.32United Arab Emirates10.016PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
613985.37United Arab Emirates10.016PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
613985.41United Arab Emirates10.016Likely PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
613985.G.1.1Lebanon50.045PathogenicBeta-ThalassemiaZahed et al, 1997 Unknown number of patients with beta-zer...
613985.G.3.2Lebanon260.05PathogenicBeta-ThalassemiaMakhoul et al. 2005 Patients with beta-zero-thalassemia from...
613985.G.7Iraq10.6Likely PathogenicBeta-ThalassemiaAl-Allawi et al. 2006 Mutations identified in parents of β-tha...
613985.G.8Iraq7.3Likely PathogenicBeta-ThalassemiaJalal et al. 2010 Mutations identified in 123 β-thalassaem...
613985.G.16United Arab Emirates11NALikely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutations identified in 137 Emirati β-th...
613985.G.17.3United Arab Emirates80.043Likely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1993 Mutations identified in 34 β-thalassaemi...
613985.G.18United Arab Emirates30.06Likely PathogenicBeta-ThalassemiaQuaife et al. 1994 Mutations identified in 27 families comp...
613985.G.21.5United Arab Emirates60.024PathogenicBeta-Thalassemia 3 β-thalassaemia patients
613985.G.22.1United Arab Emirates60.016PathogenicBeta-ThalassemiaBaysal, 2005 Homozygous β-thalassemia mutations repor...
613985.G.22.11United Arab Emirates20.016PathogenicBeta-ThalassemiaBaysal, 2005 2 patients with β-thalassemia. Both pati...
613985.G.23.1United Arab Emirates170.021PathogenicBeta-ThalassemiaBaysal. 2011; Baysal 2017 412 Emirati patients with beta thalassem...
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