NM_000518.5:c.112del

HGVS Expressions

  • NG_059281.1:g.5292del
  • NM_000518.5:c.112del
  • NP_000509.1:p.Trp38GlyfsTer24
  • NC_000011.10:g.5226781del

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Deletion

Clinvar

15431

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.35United Arab Emirates1<0.104PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
613985.G.3.2Lebanon10.002PathogenicBeta-ThalassemiaMakhoul et al. 2005 Patients with beta-zero-thalassemia from...
613985.G.9.1KuwaitLikely Pathogenic, PathogenicBeta-ThalassemiaAdekile et al. 1994 Mutations identified in 41 unrelated Kuw...
613985.G.16United Arab Emirates1NALikely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutations identified in 137 Emirati β-th...
613985.G.23.1United Arab Emirates10.001PathogenicBeta-ThalassemiaBaysal. 2011; Baysal 2017 412 Emirati patients with beta thalassem...
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