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
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

15447

Epidemiology in the Arab World

View Map
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...
© CAGS 2023. All rights reserved.