NM_000518.5:c.251del

HGVS Expressions

  • NG_059281.1:g.5431del
  • NM_000518.5:c.251del
  • NP_000509.1:p.Gly84AlafsTer6
  • NC_000011.10:g.5226643del

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Deletion

Clinvar

36306

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.28United Arab Emirates20.008PathogenicBeta-Thalassemia Patient with β-thalassemia. Patient was ...
613985.42United Arab Emirates1<0.104Likely PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
613985.44United Arab Emirates1<0.104PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
603903.G.2.6United 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.16United Arab Emirates3NALikely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutations identified in 137 Emirati β-th...
613985.G.22.1United Arab Emirates2<0.104PathogenicBeta-ThalassemiaBaysal, 2005 Homozygous β-thalassemia mutations repor...
613985.G.22.10United Arab Emirates2<0.104PathogenicBeta-ThalassemiaBaysal, 2005 2 patients with β-thalassemia. Both pati...
613985.G.23.1United Arab Emirates80.01PathogenicBeta-ThalassemiaBaysal. 2011; Baysal 2017 412 Emirati patients with beta thalassem...
613985.G.24.1Lebanon10.01PathogenicBeta-ThalassemiaFarra et al. 2021 Mutations identified in 126 Lebanese pat...
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