NM_000517.6:c.*94A>G

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HGVS Expressions

  • NG_059271.1:g.5848A>G
  • NM_000517.6:c.*94A>G
  • NP_000508.1:p.?
  • NC_000016.10:g.173694A>G

Associated Genes

Hemoglobin--Alpha Locus 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

63751269

Clinvar

375749

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604131.8LebanonPathogenicAlpha-ThalassemiaFarra et al. 2015
604131.11.1United Arab Emirates2Likely Pathogenic, PathogenicAlpha-ThalassemiaEl-Kalla and Baysal, 1998 Identified through testing 418 consecuti...
604131.11.3United Arab Emirates1PathogenicAlpha-ThalassemiaEl-Kalla and Baysal, 1998 Identified through testing 418 consecuti...
604131.13United Arab Emirates1NALikely PathogenicAlpha-ThalassemiaTurner et al. 2014 'Case 2' in the publication
613978.1.G.1Oman6Likely PathogenicHemoglobin H DiseaseEl-Kalla and Baysal, 1998 3 Omani patients
613978.1.G.2United Arab Emirates6Likely PathogenicHemoglobin H DiseaseEl-Kalla and Baysal, 1998 3 Emirati patients
613978.1.G.4United Arab Emirates9Likely PathogenicHemoglobin H DiseaseEl-Kalla and Baysal, 1998 9 Emirati patients
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Contributors

  • Sayeeda Hana: 13.12.2020

Edit History

  • Pratibha Nair: 25.01.2023
  • Pratibha Nair: 24.01.2023
  • Pratibha Nair: 29.11.2022
  • Pratibha Nair: 23.08.2022
  • Asha Deepthi: 06.07.2022
  • Sayeeda Hana: 25.08.2021
  • Sayeeda Hana: 13.01.2021
  • Sayeeda Hana: 13.12.2020
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© CAGS 2024. All rights reserved.