NM_000517.6:c.*92A>G

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HGVS Expressions

  • NG_059271.1:g.5846A>G
  • NM_000517.6:c.*92A>G
  • NP_000508.1:p.?
  • NC_000016.10:g.173692A>G

Associated Genes

Hemoglobin--Alpha Locus 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

63750067

Clinvar

15647

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604131.7LebanonAlpha-ThalassemiaFarra et al. 2015
604131.11.4United Arab Emirates1Likely PathogenicAlpha-ThalassemiaEl-Kalla and Baysal, 1998 Identified through testing 418 consecuti...
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Contributors

  • Sayeeda Hana: 25.11.2020

Edit History

  • Pratibha Nair: 28.11.2022
  • Pratibha Nair: 23.08.2022
  • Sayeeda Hana: 25.08.2021
  • Sayeeda Hana: 13.01.2021
  • Sayeeda Hana: 25.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.