NM_000518.5:c.114del

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  2. NM_000518.5:c.114del

HGVS Expressions

  • NG_000007.3:g.70838del
  • NM_000518.5:c.114del
  • NP_000509.1:p.Pro37_Trp38insTer
  • NC_000011.10:g.5226779del

Associated Genes

Hemoglobin - Beta Locus
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

281865474

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.17.3United Arab Emirates20.011Likely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1993 Mutations identified in 34 β-thalassaemi...
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Contributors

  • Asha Deepthi: 02.09.2021

Edit History

  • Rahila Mir: 09.02.2022
  • Asha Deepthi: 02.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.