NM_000518.5:c.90C>T

HGVS Expressions

  • NG_059281.1:g.5140C>T
  • NM_000518.5:c.90C>T
  • NP_000509.1:p.Gly30=

Associated Genes

Hemoglobin - Beta Locus
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Genomic Location

chr11:5226932

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

38682

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.1.3Lebanon40.036PathogenicBeta-ThalassemiaZahed et al, 1997 Unknown number of patients with unspecif...
613985.G.3.1Lebanon500.096PathogenicBeta-ThalassemiaMakhoul et al. 2005 Patients with beta-plus-thalassemia from...
613985.G.24.1Lebanon130.07Likely PathogenicBeta-ThalassemiaFarra et al. 2021 Mutations identified in 126 Lebanese pat...
613985.G.24.2Iraq10.03Likely PathogenicBeta-ThalassemiaFarra et al. 2021 Mutation identified in 26 Iraqi patients...
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