NM_000518.5:c.93-21G>A

HGVS Expressions

  • NG_059281.1:g.5252G>A
  • NM_000518.5:c.93-21G>A
  • NP_000509.1:p.?
  • NC_000011.10:g.5226820C>T

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

Variant Type

Substitution

Clinvar

15454

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.1Lebanon2NAPathogenicBeta-ThalassemiaEl Rassi et al, 2009 Beta-thalassemia intermedia patient with...
613985.7Saudi ArabiaPathogenicBeta-ThalassemiaWong et al. 1989 β+thalassaemia major patient
613985.19Jordan1PathogenicBeta-ThalassemiaAdekile et al. 2005 Patient from 'family 13' in the publicat...
613985.24.1Lebanon1PathogenicBeta-ThalassemiaZalloua et al. 2003 Proband
613985.24.3Lebanon1Uncertain SignificanceZalloua et al. 2003 Father of proband
613985.37United Arab Emirates1<0.104PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
613985.G.1.2Lebanon440.4PathogenicBeta-ThalassemiaZahed et al, 1997 Unknown number of patients with beta-plu...
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.2.3EgyptNAPathogenicBeta-Thalassemiael-Hazmi et al, 1995 Beta-thalassemia mutations observed in 3...
613985.G.2.4SyriaNAPathogenicBeta-Thalassemiael-Hazmi et al, 1995 Beta-thalassemia mutations observed in 3...
613985.G.2.5LebanonNAPathogenicBeta-Thalassemiael-Hazmi et al, 1995 Beta-thalassemia mutations observed in 2...
613985.G.2.6YemenNAPathogenicBeta-Thalassemiael-Hazmi et al, 1995 Beta-thalassemia mutations observed in 1...
613985.G.3.1Lebanon1780.342PathogenicBeta-ThalassemiaMakhoul et al. 2005 Patients with beta-plus-thalassemia from...
613985.G.5Bahrain1.5PathogenicBeta-ThalassemiaJassim et al. 1998 Mutations identified in a study group of...
613985.G.6ComorosPathogenicBeta-ThalassemiaBadens et al. 2000 Mutations identified in β-thalassaemic h...
613985.G.7Iraq1.9Likely PathogenicBeta-ThalassemiaAl-Allawi et al. 2006 Mutations identified in parents of β-tha...
613985.G.8Iraq19.5Likely 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.9.2Egypt4PathogenicBeta-ThalassemiaAdekile et al. 1994 Mutations identified in an Egyptian fami...
613985.G.9.4Lebanon2PathogenicBeta-ThalassemiaAdekile et al. 1994 Mutations identified in an Lebanese fami...
613985.G.16United Arab Emirates5NALikely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutations identified in 137 Emirati β-th...
613985.G.17.3United Arab Emirates30.016Likely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1993 Mutations identified in 34 β-thalassaemi...
613985.G.22.6United Arab Emirates3<0.104PathogenicBeta-ThalassemiaBaysal, 2005 3 patients with β-thalassemia. All patie...
613985.G.23.1United Arab Emirates80.01PathogenicBeta-ThalassemiaBaysal. 2011; Baysal 2017 412 Emirati patients with beta thalassem...
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