NM_000518.5:c.30dup

HGVS Expressions

  • NG_000007.3:g.70624dup
  • NM_000518.5:c.30dup
  • NP_000509.1:p.Ala11CysfsTer13
  • NC_000011.10:g.5226992dup

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Clinvar

869352

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.24.1Lebanon20.01PathogenicBeta-ThalassemiaFarra et al. 2021 Mutations identified in 126 Lebanese pat...
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