NM_000518.5:c.126_129del

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  2. NM_000518.5:c.126_129del

HGVS Expressions

  • NG_059281.1:g.5306_5309del
  • NM_000518.5:c.126_129del
  • NP_000509.1:p.Phe42fs

Associated Genes

Hemoglobin - Beta Locus
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Genomic Location

chr11:5226765-5226768

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Deletion

dbSNP

80356821

Clinvar

15417

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.5Bahrain1.5PathogenicBeta-ThalassemiaJassim et al. 1998 Mutations identified in a study group of...
613985.G.24.2Iraq10.03Likely PathogenicBeta-ThalassemiaFarra et al. 2021 Mutation identified in 26 Iraqi patients...
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Contributors

  • Asha Deepthi: 15.12.2020

Edit History

  • Asha Deepthi: 30.07.2024
  • Asha Deepthi: 15.12.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.