NM_000518.4:c.79G>A

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HGVS Expressions

  • NG_000007.3:g.70673G>A
  • NM_000518.4:c.79G>A
  • NP_000509.1:p.Glu27Lys
  • NC_000011.10:g.5226943C>T

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

33950507

Clinvar

15161

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.23.1United Arab Emirates10.001PathogenicBeta-ThalassemiaBaysal. 2011; Baysal 2017 412 Emirati patients with beta thalassem...
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Contributors

  • Pratibha Nair: 24.03.2022

Edit History

  • Pratibha Nair: 11.01.2023
  • Pratibha Nair: 24.03.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.