NM_000518.5:c.-80T>A

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  2. NM_000518.5:c.-80T>A

HGVS Expressions

  • NG_059281.1:g.4971T>A
  • NM_000518.5:c.-80T>A

Associated Genes

Hemoglobin - Beta Locus
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Genomic Location

chr11:5227101

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

33980857

Clinvar

15467

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.1.2Lebanon10.009Likely PathogenicBeta-ThalassemiaZahed et al, 1997 Unknown number of patients with beta-plu...
613985.G.24.1Lebanon10.01Likely PathogenicBeta-ThalassemiaFarra et al. 2021 Mutations identified in 126 Lebanese pat...
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Contributors

  • Asha Deepthi: 13.05.2020

Edit History

  • Asha Deepthi: 29.07.2024
  • Asha Deepthi: 07.07.2021
  • Asha Deepthi: 17.11.2020
  • Asha Deepthi: 14.05.2020
  • Asha Deepthi: 13.05.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.