Hb Knossos NM_000518.5:c.82G>T

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  2. Hb Knossos NM_000518.5:c.82G>T

HGVS Expressions

  • NG_059281.1:g.5132G>T
  • NM_000518.5:c.82G>T
  • NP_000509.1:p.Ala28Ser
  • NC_000011.10:g.5226940C>A

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

35424040

Clinvar

15239

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.15.2Palestine2PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutation identified in a Palestinian fam...
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
  • Asha Deepthi: 11.01.2021

Edit History

  • Pratibha Nair: 24.03.2022
  • Asha Deepthi: 11.01.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.