NM_000518.5:c.27dup

HGVS Expressions

  • NG_059281.1:g.5077dup
  • NM_000518.5:c.27dup
  • NP_000509.1:p.Ser10ValfsTer14
  • NC_000011.10:g.5226995dup

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

Variant Type

Duplication

Clinvar

36308

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.24.1Lebanon1PathogenicBeta-ThalassemiaZalloua et al. 2003 Proband
613985.24.2Lebanon1Uncertain SignificanceZalloua et al. 2003 Sister of proband
613985.24.4Lebanon1Uncertain SignificanceZalloua et al. 2003 Mother of proband
613985.34United Arab Emirates10.043PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
613985.35United Arab Emirates10.043PathogenicBeta-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.2.1Saudi ArabiaNAPathogenicBeta-Thalassemiael-Hazmi et al, 1995 Beta-thalassemia mutations observed in 7...
613985.G.2.2JordanNAPathogenicBeta-Thalassemiael-Hazmi et al, 1995 Beta-thalassemia mutations observed in 2...
613985.G.3.2Lebanon10.002PathogenicBeta-ThalassemiaMakhoul et al. 2005 Patients with beta-zero-thalassemia from...
613985.G.5Bahrain1.5PathogenicBeta-ThalassemiaJassim et al. 1998 Mutations identified in a study group of...
613985.G.7Iraq7.7Likely PathogenicBeta-ThalassemiaAl-Allawi et al. 2006 Mutations identified in parents of β-tha...
613985.G.8Iraq12.2Likely 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.16United Arab Emirates15NALikely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutations identified in 137 Emirati β-th...
613985.G.17.3United Arab Emirates160.086Likely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1993 Mutations identified in 34 β-thalassaemi...
613985.G.18United Arab Emirates40.08Likely PathogenicBeta-ThalassemiaQuaife et al. 1994 Mutations identified in 27 families comp...
613985.G.21.2United Arab Emirates200.079PathogenicBeta-Thalassemia 10 β-thalassaemia patients
613985.G.22.1United Arab Emirates220.043PathogenicBeta-ThalassemiaBaysal, 2005 Homozygous β-thalassemia mutations repor...
613985.G.22.8United Arab Emirates30.043Likely PathogenicBeta-ThalassemiaBaysal, 2005 3 patients with β-thalassemia. All patie...
613985.G.23.1United Arab Emirates250.03PathogenicBeta-ThalassemiaBaysal. 2011; Baysal 2017 412 Emirati patients with beta thalassem...
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