NM_000518.5:c.30dup

  1. Home
  2. NM_000518.5:c.30dup

HGVS Expressions

  • NG_000007.3:g.70624dup
  • NM_000518.5:c.30dup
  • NP_000509.1:p.Ala11CysfsTer13
  • NC_000011.10:g.5226992dup

Associated Genes

Hemoglobin - Beta Locus
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

34548294

Clinvar

869352

Epidemiology in the Arab World

View Map
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...
Download Table

Contributors

  • Asha Deepthi: 29.07.2024

Edit History

  • Asha Deepthi: 29.07.2024
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.