NM_000518.5:c.110del

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HGVS Expressions

  • NG_059281.1:g.5290del
  • NM_000518.5:c.110del
  • NP_000509.1:p.Pro37fs

Associated Genes

Hemoglobin - Beta Locus
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Genomic Location

chr11:5226782

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

267607297

Clinvar

15424

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...
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Contributors

  • Asha Deepthi: 15.12.2020

Edit History

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