NM_000518.5:c.316-3C>A

HGVS Expressions

  • NG_059281.1:g.6343C>A
  • NM_000518.5:c.316-3C>A
  • NP_000509.1:p.?
  • NC_000011.10:g.5225729G>T

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

15451

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.6Egypt1NAPathogenicBeta-ThalassemiaWong et al. 1989 Patient presented with β-thalassaemia tr...
613985.33United Arab Emirates1<0.104PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
613985.G.16United Arab Emirates1NALikely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutations identified in 137 Emirati β-th...
613985.G.19United Arab EmiratesNANALikely PathogenicBeta-ThalassemiaDe Leo et al. 1995 Mutations identified in 35 unrelated β-t...
613985.G.23.1United Arab Emirates30.004PathogenicBeta-ThalassemiaBaysal. 2011; Baysal 2017 412 Emirati patients with beta thalassem...
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