NM_000518.5:c.93-1G>C

HGVS Expressions

  • NG_059281.1:g.5272G>C
  • NM_000518.5:c.93-1G>C
  • NP_000509.1:p.?
  • NC_000011.10:g.5226800C>G

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

439166

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.15.1Oman1PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutations identified in Omani β-thalassa...
613985.G.16United Arab Emirates6NALikely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutations identified in 137 Emirati β-th...
613985.G.17.3United Arab Emirates70.038Likely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1993 Mutations identified in 34 β-thalassaemi...
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