NM_000518.5:c.46del

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HGVS Expressions

  • NG_000007.3:g.70640del
  • NM_000518.5:c.46del
  • NP_000509.1:p.Trp16GlyfsTer4
  • NC_000011.10:g.5226976del

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

63749960

Clinvar

38647

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.24.1Lebanon20.01PathogenicBeta-ThalassemiaFarra et al. 2021 Mutations identified in 126 Lebanese pat...
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Contributors

  • Asha Deepthi: 29.07.2024

Edit History

  • Asha Deepthi: 29.07.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.