Hb Monroe NM_000518.5:c.92G>C

HGVS Expressions

  • NG_059281.1:g.5142G>C
  • NM_000518.5:c.92G>C
  • NP_000509.1:p.Arg31Thr
  • NC_000011.10:g.5226930C>G

Associated Genes

Hemoglobin - Beta Locus
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Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

15234

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
603903.5United Arab Emirates1<0.104PathogenicBeta-ThalassemiaBaysal, 2005 Patient with sickle beta thalassemia. Pa...
613985.36United Arab Emirates1<0.104PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
613985.G.3.2Lebanon140.027PathogenicBeta-ThalassemiaMakhoul et al. 2005 Patients with beta-zero-thalassemia from...
613985.G.7Iraq1.0Likely PathogenicBeta-ThalassemiaAl-Allawi et al. 2006 Mutations identified in parents of β-tha...
613985.G.16United Arab Emirates6NALikely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutations identified in 137 Emirati β-th...
613985.G.18United Arab Emirates20.04Likely PathogenicBeta-ThalassemiaQuaife et al. 1994 Mutations identified in 27 families comp...
613985.G.21.6United Arab Emirates60.024PathogenicBeta-ThalassemiaBaysal, 2001 3 β-thalassaemia patients
613985.G.22.1United Arab Emirates6<0.104PathogenicBeta-ThalassemiaBaysal, 2005 Homozygous β-thalassemia mutations repor...
613985.G.22.6United Arab Emirates3<0.104PathogenicBeta-ThalassemiaBaysal, 2005 3 patients with β-thalassemia. All patie...
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