NM_000518.4:c.92+1G>T

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HGVS Expressions

  • NG_000007.3:g.70687G>T
  • NM_000518.4:c.92+1G>T
  • NP_000509.1:p.?
  • NC_000011.10:g.5226929C>A

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

33971440

Clinvar

15437

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 Emirates70.009PathogenicBeta-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
  • Asha Deepthi: 05.12.2022
  • Pratibha Nair: 24.03.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.