NM_000518.5:c.135del

HGVS Expressions

  • NG_059281.1:g.5315del
  • NM_000518.5:c.135del
  • NP_000509.1:p.Phe46LeufsTer16
  • NC_000011.10:g.5226758del

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Deletion

Clinvar

15415

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.31United Arab Emirates1<0.104PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
613985.40United Arab Emirates1<0.104Likely PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
603903.G.2.5United Arab Emirates2<0.104PathogenicBeta-ThalassemiaBaysal, 2005 2 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.1.1Lebanon20.018PathogenicBeta-ThalassemiaZahed et al, 1997 Unknown number of patients with beta-zer...
613985.G.3.2Lebanon80.015PathogenicBeta-ThalassemiaMakhoul et al. 2005 Patients with beta-zero-thalassemia from...
613985.G.5Bahrain4.5PathogenicBeta-ThalassemiaJassim et al. 1998 Mutations identified in a study group of...
613985.G.7Iraq12.5Likely PathogenicBeta-ThalassemiaAl-Allawi et al. 2006 Mutations identified in parents of β-tha...
613985.G.8Iraq1.6Likely 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.15.1Oman6PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutations identified in Omani β-thalassa...
613985.G.16United Arab Emirates4NALikely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutations identified in 137 Emirati β-th...
613985.G.17.3United Arab Emirates20.011Likely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1993 Mutations identified in 34 β-thalassaemi...
613985.G.23.1United Arab Emirates60.007PathogenicBeta-ThalassemiaBaysal. 2011; Baysal 2017 412 Emirati patients with beta thalassem...
613985.G.24.1Lebanon20.01PathogenicBeta-ThalassemiaFarra et al. 2021 Mutations identified in 126 Lebanese pat...
613985.G.24.3Syria30.11PathogenicBeta-ThalassemiaFarra et al. 2021 Mutation identified in 18 Syrian patient...
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