NM_000518.5:c.92+1G>C

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HGVS Expressions

  • NG_059281.1:g.5143G>C
  • NM_000518.5:c.92+1G>C
  • NP_000509.1:p.?
  • NC_000011.10:g.5226929C>G

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

33971440

Clinvar

869246

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.16United Arab Emirates1NALikely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutations identified in 137 Emirati β-th...
613985.G.23.1United Arab Emirates367.445PathogenicBeta-ThalassemiaBaysal. 2011; Baysal 2017 412 Emirati patients with beta thalassem...
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Contributors

  • Asha Deepthi: 01.09.2021

Edit History

  • Asha Deepthi: 05.12.2022
  • Pratibha Nair: 24.03.2022
  • Asha Deepthi: 01.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.