NM_000518.5:c.92+1G>A

HGVS Expressions

  • NG_059281.1:g.5143G>A
  • NM_000518.5:c.92+1G>A

Associated Genes

Hemoglobin - Beta Locus
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Genomic Location

chr11:5226929

Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

15436

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
613985.G.1.1Lebanon190.173PathogenicBeta-ThalassemiaZahed et al, 1997 Unknown number of patients with beta-zer...
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.3.2Lebanon780.15PathogenicBeta-ThalassemiaMakhoul et al. 2005 Patients with beta-zero-thalassemia from...
613985.G.5Bahrain3.0PathogenicBeta-ThalassemiaJassim et al. 1998 Mutations identified in a study group of...
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.22.1United Arab Emirates4<0.104PathogenicBeta-ThalassemiaBaysal, 2005 Homozygous β-thalassemia mutations repor...
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