NM_000518.5:c.-151C>T

HGVS Expressions

  • NG_059281.1:g.4900C>T
  • NM_000518.5:c.-151C>T
  • NC_000011.10:g.5227172G>A

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic, Uncertain Significance

Variant Type

Substitution

Clinvar

15461

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.36United Arab Emirates1<0.104PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
613985.G.11Kuwait3Uncertain SignificanceBeta-ThalassemiaAdekile et al. 2005 3 patient from 'family 9' in the publica...
613985.G.16United Arab Emirates1NAUncertain SignificanceBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutations identified in 137 Emirati β-th...
613985.G.23.1United Arab Emirates20.002PathogenicBeta-ThalassemiaBaysal. 2011; Baysal 2017 412 Emirati patients with beta thalassem...
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