NM_000518.5:c.0_92+25del

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HGVS Expressions

  • NG_059281.1:g.4875_5167del
  • NM_000518.5:c.0_92+25del

Associated Genes

Hemoglobin - Beta Locus
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Genomic Location

chr11:5226905-5227197

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1564875707

Clinvar

590887

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.1.1Lebanon30.027PathogenicBeta-ThalassemiaZahed et al, 1997 Unknown number of patients with beta-zer...
613985.G.3.2Lebanon30.006PathogenicBeta-ThalassemiaMakhoul et al. 2005 Patients with beta-zero-thalassemia from...
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Contributors

  • Asha Deepthi: 13.05.2020

Edit History

  • Asha Deepthi: 07.07.2021
  • Asha Deepthi: 16.11.2020
  • Sayeeda Hana: 04.10.2020
  • Asha Deepthi: 14.05.2020
  • Asha Deepthi: 13.05.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.