NM_000518.5:c.92+5G>C

HGVS Expressions

  • NG_059281.1:g.5147G>C
  • NM_000518.5:c.92+5G>C
  • NP_000509.1:p.?
  • NC_000011.10:g.5226925C>G

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

15447

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.38United Arab Emirates10.476Likely PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
613985.39United Arab Emirates10.476Likely PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
613985.40United Arab Emirates10.476Likely PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
613985.41United Arab Emirates10.476Likely PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
613985.42United Arab Emirates10.476Likely PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
613985.45.1United Arab Emirates2NAPathogenicBeta-ThalassemiaBelhoul et al. 2013 Proband
613985.45.2United Arab Emirates1NABelhoul et al. 2013 Father of 613985.45.1 - compound heteroz...
613985.45.3United Arab Emirates1NABelhoul et al. 2013 Mother of 613985.45.1; she has β-thal tr...
603903.G.2.2United Arab Emirates170.476Likely PathogenicBeta-ThalassemiaBaysal, 2005 17 patients with sickle beta thalassemia...
603903.G.3.1Arab; United Arab Emirate...NANALikely PathogenicBeta-ThalassemiaEl-Kalla and Baysal, 1998 Mutations identified in 29 patients with...
613985.G.1.2Lebanon30.027PathogenicBeta-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.3.1Lebanon40.008PathogenicBeta-ThalassemiaMakhoul et al. 2005 Patients with beta-plus-thalassemia from...
613985.G.5Bahrain16.7PathogenicBeta-ThalassemiaJassim et al. 1998 Mutations identified in a study group of...
613985.G.7Iraq6.7Likely PathogenicBeta-ThalassemiaAl-Allawi et al. 2006 Mutations identified in parents of β-tha...
613985.G.8Iraq8.1Likely 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.14OmanPathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1993 15 patients with transfusion-dependent β...
613985.G.15.1Oman48PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutations identified in Omani β-thalassa...
613985.G.16United Arab Emirates138NALikely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutations identified in 137 Emirati β-th...
613985.G.17.1United Arab Emirates820.541PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1993 41 transfusion-dependent β-thalassaemia ...
613985.G.17.2United Arab Emirates180.541Likely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1993 Mutations identified in 18 transfusion-d...
613985.G.18United Arab Emirates330.66Likely PathogenicBeta-ThalassemiaQuaife et al. 1994 Mutations identified in 27 families comp...
613985.G.19United Arab EmiratesNANALikely PathogenicBeta-ThalassemiaDe Leo et al. 1995 Mutations identified in 35 unrelated β-t...
613985.G.21.1United Arab Emirates1680.661PathogenicBeta-Thalassemia 84 β-thalassaemia patients
613985.G.22.1United Arab Emirates2320.476PathogenicBeta-ThalassemiaBaysal, 2005 Homozygous β-thalassemia mutations repor...
613985.G.22.2United Arab Emirates100.476Likely PathogenicBeta-ThalassemiaBaysal, 2005 10 patients with β-thalassemia. All pati...
613985.G.22.3United Arab Emirates90.476Likely PathogenicBeta-ThalassemiaBaysal, 2005 9 patients with β-thalassemia. All patie...
613985.G.22.4United Arab Emirates90.476Likely PathogenicBeta-ThalassemiaBaysal, 2005 9 patients with β-thalassemia. All patie...
613985.G.22.7United Arab Emirates30.476Likely PathogenicBeta-ThalassemiaBaysal, 2005 3 patients with β-thalassemia. All patie...
613985.G.22.8United Arab Emirates30.476Likely PathogenicBeta-ThalassemiaBaysal, 2005 3 patients with β-thalassemia. All patie...
613985.G.22.9United Arab Emirates20.476Likely PathogenicBeta-ThalassemiaBaysal, 2005 2 patients with β-thalassemia. Both pati...
613985.G.22.12United Arab Emirates20.476Likely PathogenicBeta-ThalassemiaBaysal, 2005 2 patients with β-thalassemia. Both pati...
613985.G.22.13United Arab Emirates20.476Likely PathogenicBeta-ThalassemiaBaysal, 2005 2 patients with β-thalassemia. Both pati...
613985.G.22.14United Arab Emirates20.476Likely PathogenicBeta-ThalassemiaBaysal, 2005 2 patients with β-thalassemia. Both pati...
613985.G.24.1Lebanon40.02PathogenicBeta-ThalassemiaFarra et al. 2021 Mutations identified in 126 Lebanese pat...
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