NM_000518.5:c.-138C>A

HGVS Expressions

  • NG_059281.1:g.4913C>A
  • NM_000518.5:c.-138C>A

Associated Genes

Hemoglobin - Beta Locus
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Genomic Location

chr11:5227159

Clinical Significance

Likely Pathogenic,Pathogenic

Variant Type

Substitution

Clinvar

393701

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
603903.G.1Bahrain2NALikely PathogenicSickle Cell AnemiaJassim and Al Arrayed, 2006 Two patients from two unrelated families...
613985.G.5Bahrain1.5PathogenicBeta-ThalassemiaJassim et al. 1998 Mutations identified in a study group of...
613985.G.22.1United Arab Emirates4<0.104PathogenicBeta-ThalassemiaBaysal, 2005 Homozygous β-thalassemia mutations repor...
613985.G.22.12United Arab Emirates2<0.104Likely PathogenicBeta-ThalassemiaBaysal, 2005 2 patients with β-thalassemia. Both pati...
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