NM_000518.5:c.25_26del

HGVS Expressions

  • NG_059281.1:g.5075_5076del
  • NM_000518.5:c.25_26del
  • NP_000509.1:p.Lys9ValfsTer14
  • NC_000011.10:g.5226996_5226997del

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Deletion

Clinvar

15413

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.29United Arab Emirates20.008PathogenicBeta-Thalassemia Patient with β-thalassemia. Patient was ...
613985.30United Arab Emirates10.019PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
603903.G.3.1Arab; United Arab Emirate...NANAPathogenicBeta-ThalassemiaEl-Kalla and Baysal, 1998 Mutations identified in 29 patients with...
613985.G.1.1Lebanon40.036PathogenicBeta-ThalassemiaZahed et al, 1997 Unknown number of patients with beta-zer...
613985.G.3.2Lebanon130.025PathogenicBeta-ThalassemiaMakhoul et al. 2005 Patients with beta-zero-thalassemia from...
613985.G.7Iraq2.9Likely PathogenicBeta-ThalassemiaAl-Allawi et al. 2006 Mutations identified in parents of β-tha...
613985.G.8Iraq15.4Likely PathogenicBeta-ThalassemiaJalal et al. 2010 Mutations identified in 123 β-thalassaem...
613985.G.9.1KuwaitLikely Pathogenic, PathogenicBeta-ThalassemiaAdekile et al. 1994 Mutations identified in 41 unrelated Kuw...
613985.G.11Kuwait3PathogenicBeta-ThalassemiaAdekile et al. 2005 3 patient from 'family 9' in the publica...
613985.G.12Kuwait2PathogenicBeta-ThalassemiaAdekile et al. 2005 2 patient from 'family 10' in the public...
613985.G.16United Arab Emirates10NALikely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutations identified in 137 Emirati β-th...
613985.G.17.2United Arab EmiratesNA0.043Likely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1993 Mutations identified in 18 transfusion-d...
613985.G.17.3United Arab EmiratesNA0.043Likely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1993 Mutations identified in 34 β-thalassaemi...
613985.G.22.1United Arab Emirates20.019PathogenicBeta-ThalassemiaBaysal, 2005 Homozygous β-thalassemia mutations repor...
613985.G.22.3United Arab Emirates90.019Likely PathogenicBeta-ThalassemiaBaysal, 2005 9 patients with β-thalassemia. All patie...
613985.G.23.1United Arab Emirates180.022PathogenicBeta-ThalassemiaBaysal. 2011; Baysal 2017 412 Emirati patients with beta thalassem...
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