NM_000518.5:c.332T>C

HGVS Expressions

  • NG_059281.1:g.6362T>C
  • NM_000518.5:c.332T>C
  • NP_000509.1:p.Leu111Pro
  • NC_000011.10:g.5225710A>G

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

15352

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.16United Arab Emirates2NALikely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutations identified in 137 Emirati β-th...
613985.G.22.14United Arab Emirates2<0.104Likely PathogenicBeta-ThalassemiaBaysal, 2005 2 patients with β-thalassemia. Both pati...
613985.G.23.1United Arab Emirates30.004PathogenicBeta-ThalassemiaBaysal. 2011; Baysal 2017 412 Emirati patients with beta thalassem...
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