Hb D-Punjab NM_000518.5:c.364G>C

HGVS Expressions

  • NG_000007.3:g.71938G>C
  • NM_000518.5:c.364G>C
  • NP_000509.1:p.Glu122Gln
  • NC_000011.10:g.5225678C>G

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Benign, Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

15152

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.43United Arab Emirates10.016PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
613985.45.2United Arab Emirates1NABelhoul et al. 2013 Father of 613985.45.1 - compound heteroz...
603903.G.2.4United Arab Emirates30.016Likely PathogenicSickle Cell AnemiaBaysal, 2005 3 patients with sickle cell disease. All...
603903.G.3.2United Arab EmiratesNANALikely PathogenicSickle Cell AnemiaEl-Kalla and Baysal, 1998 Patients from three families with Hb SD....
613985.G.21.7United Arab Emirates40.016Likely PathogenicBeta-Thalassemia 2 β-thalassaemia patients
613985.G.22.9United Arab Emirates20.016Likely PathogenicBeta-ThalassemiaBaysal, 2005 2 patients with β-thalassemia. Both pati...
613985.G.23.1United Arab Emirates180.022PathogenicBeta-ThalassemiaBaysal. 2011; Baysal 2017 412 Emirati patients with beta thalassem...
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