NM_000518.5:c.79G>T

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HGVS Expressions

  • NG_000007.3:g.70673G>T
  • NM_000518.5:c.79G>T
  • NP_000509.1:p.Glu27Ter
  • NC_000011.10:g.5226943C>A

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

33950507

Clinvar

38650

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.24.1Lebanon10.01PathogenicBeta-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.