NM_000518.5:c.*110_*114del

HGVS Expressions

  • NG_059281.1:g.6584_6588del
  • NM_000518.5:c.*110_*114del
  • NP_000509.1:p.?
  • NC_000011.10:g.5225486_5225490del

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Deletion

Clinvar

15506

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.9Egypt2NAPathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997
613985.32United Arab Emirates1<0.104PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
613985.G.15.1Oman2PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutations identified in Omani β-thalassa...
613985.G.22.13United Arab Emirates2<0.104Likely PathogenicBeta-ThalassemiaBaysal, 2005 2 patients with β-thalassemia. Both pati...
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