NM_000518.4:c.114G>A

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  2. NM_000518.4:c.114G>A

HGVS Expressions

  • NG_000007.3:g.70838G>A
  • NM_000518.4:c.114G>A
  • NP_000509.1:p.Trp38Ter
  • NC_000011.10:g.5226778C>T

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

33974936

Clinvar

15405

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
603903.3United Arab Emirates1<0.104PathogenicBeta-ThalassemiaBaysal, 2005 Patient with sickle beta thalassemia. Pa...
603903.G.3.1Arab; United Arab Emirate...NANAPathogenicBeta-ThalassemiaEl-Kalla and Baysal, 1998 Mutations identified in 29 patients with...
613985.G.23.1United Arab Emirates10.001PathogenicBeta-ThalassemiaBaysal. 2011; Baysal 2017 412 Emirati patients with beta thalassem...
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Contributors

  • Asha Deepthi: 15.09.2021

Edit History

  • Pratibha Nair: 24.03.2022
  • Asha Deepthi: 14.10.2021
  • Asha Deepthi: 15.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.