NM_000518.5:c.20del

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  2. NM_000518.5:c.20del

HGVS Expressions

  • NG_059281.1:g.5070del
  • NM_000518.5:c.20del
  • NP_000509.1:p.Glu7fs

Associated Genes

Hemoglobin - Beta Locus
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Genomic Location

chr11:5227002

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic, Protective

Variant Type

Deletion

dbSNP

63749819

Clinvar

15418

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.2.1Saudi ArabiaNAPathogenicBeta-Thalassemiael-Hazmi et al, 1995 Beta-thalassemia mutations observed in 7...
613985.G.4Algeria1NAProtectiveBeta-ThalassemiaBouhass et al. 1990 Mutations identified in seven patients w...
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Contributors

  • Asha Deepthi: 15.11.2020

Edit History

  • Asha Deepthi: 10.12.2020
  • Asha Deepthi: 15.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.