NM_000518.5:c.118C>T

HGVS Expressions

  • NG_059281.1:g.5298C>T
  • NM_000518.5:c.118C>T
  • NP_000509.1:p.Gln40Ter
  • NC_000011.10:g.5226774G>A

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

15402

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
603903.2United Arab Emirates1<0.104PathogenicBeta-ThalassemiaBaysal, 2005 Patient with sickle beta thalassemia. Pa...
613985.27.1Iraq1PathogenicBeta-ThalassemiaGiordano et al. 1994 Propositus of an Iraqi Kurdish family
613985.27.2Iraq1PathogenicBeta-ThalassemiaGiordano et al. 1994 Father of 613985.27.1
613985.27.3Iraq1PathogenicBeta-ThalassemiaGiordano et al. 1994 Brother of 613985.27.1
613985.33United Arab Emirates1<0.104PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
613985.39United Arab Emirates1<0.104Likely PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
141749.G.2.2Algeria4PathogenicBeta-ThalassemiaZertal-Zidani et al. 1999 4 females belonging to the same Algerian...
141749.G.2.3Algeria3PathogenicBeta-ThalassemiaZertal-Zidani et al. 1999 2 males and 1 female belonging to the sa...
613985.G.2.1Saudi ArabiaNAPathogenicBeta-Thalassemiael-Hazmi et al, 1995 Beta-thalassemia mutations observed in 7...
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.3.2Lebanon10.002PathogenicBeta-ThalassemiaMakhoul et al. 2005 Patients with beta-zero-thalassemia from...
613985.G.5Bahrain24.2PathogenicBeta-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.7Iraq8.7Likely PathogenicBeta-ThalassemiaAl-Allawi et al. 2006 Mutations identified in parents of β-tha...
613985.G.8Iraq1.6Likely 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.9.3Palestine4PathogenicBeta-ThalassemiaAdekile et al. 1994 Mutations identified in an Palestinian f...
613985.G.15.1Oman4PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutations identified in Omani β-thalassa...
613985.G.16United Arab Emirates10NALikely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutations identified in 137 Emirati β-th...
613985.G.17.3United Arab Emirates100.054Likely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1993 Mutations identified in 34 β-thalassaemi...
613985.G.21.3United Arab Emirates120.047PathogenicBeta-Thalassemia 6 β-thalassaemia patients
613985.G.22.1United Arab Emirates12<0.104PathogenicBeta-ThalassemiaBaysal, 2005 Homozygous β-thalassemia mutations repor...
613985.G.22.11United Arab Emirates2<0.104PathogenicBeta-ThalassemiaBaysal, 2005 2 patients with β-thalassemia. Both pati...
613985.G.23.1United Arab Emirates180.022PathogenicBeta-ThalassemiaBaysal. 2011; Baysal 2017 412 Emirati patients with beta thalassem...
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