NM_000518.5:c.92+6T>C

HGVS Expressions

  • NG_059281.1:g.5148T>C
  • NM_000518.5:c.92+6T>C
  • NP_000509.1:p.?
  • NC_000011.10:g.5226924A>G

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

15450

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.8Egypt1NAPathogenicBeta-ThalassemiaDeidda et al. 1990
613985.14Kuwait2PathogenicBeta-ThalassemiaAdekile et al. 2005 Patient from 'family 5' in the publicati...
613985.15Jordan2PathogenicBeta-ThalassemiaAdekile et al. 2005 Patient from 'family 6' in the publicati...
613985.16Jordan2PathogenicBeta-ThalassemiaAdekile et al. 2005 Patient from 'family 7' in the publicati...
613985.17Jordan2PathogenicBeta-ThalassemiaAdekile et al. 2005 Patient from 'family 8' in the publicati...
613985.43United Arab Emirates10.016PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
613985.G.1.2Lebanon60.055PathogenicBeta-ThalassemiaZahed et al, 1997 Unknown number of patients with beta-plu...
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.2.5LebanonNAPathogenicBeta-Thalassemiael-Hazmi et al, 1995 Beta-thalassemia mutations observed in 2...
613985.G.3.1Lebanon750.144PathogenicBeta-ThalassemiaMakhoul et al. 2005 Patients with beta-plus-thalassemia from...
613985.G.7Iraq8.7Likely PathogenicBeta-ThalassemiaAl-Allawi et al. 2006 Mutations identified in parents of β-tha...
613985.G.8Iraq4.1Likely 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.13Kuwait2PathogenicBeta-ThalassemiaAdekile et al. 2005 2 patient from 'family 11' in the public...
613985.G.15.1Oman1PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutations identified in Omani β-thalassa...
613985.G.16United Arab Emirates8NALikely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutations identified in 137 Emirati β-th...
613985.G.17.2United Arab EmiratesNA0.038Likely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1993 Mutations identified in 18 transfusion-d...
613985.G.17.3United Arab EmiratesNA0.038Likely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1993 Mutations identified in 34 β-thalassaemi...
613985.G.22.4United Arab Emirates90.016Likely PathogenicBeta-ThalassemiaBaysal, 2005 9 patients with β-thalassemia. All patie...
613985.G.23.1United Arab Emirates120.015PathogenicBeta-ThalassemiaBaysal. 2011; Baysal 2017 412 Emirati patients with beta thalassem...
613985.G.24.1Lebanon220.12Likely PathogenicBeta-ThalassemiaFarra et al. 2021 Mutations identified in 126 Lebanese pat...
613985.G.24.2Iraq10.03Likely PathogenicBeta-ThalassemiaFarra et al. 2021 Mutation identified in 26 Iraqi patients...
613985.G.24.3Syria10.04Likely PathogenicBeta-ThalassemiaFarra et al. 2021 Mutation identified in 18 Syrian patient...
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