NM_000518.5:c.316-106C>G

HGVS Expressions

  • NG_059281.1:g.6240C>G
  • NM_000518.5:c.316-106C>G

Associated Genes

Hemoglobin - Beta Locus
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Genomic Location

chr11:5225832

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

15457

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.1.2Lebanon40.036PathogenicBeta-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.2.4SyriaNAPathogenicBeta-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.3.1Lebanon60.011PathogenicBeta-ThalassemiaMakhoul et al. 2005 Patients with beta-plus-thalassemia from...
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