Constant Spring NM_000517.6:c.427T>C

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HGVS Expressions

  • NG_059271.1:g.5752T>C
  • NM_000517.6:c.427T>C
  • NP_000508.1:p.Ter143Gln
  • NC_000016.10:g.173598T>C

Associated Genes

Hemoglobin--Alpha Locus 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

41464951

Clinvar

15624

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604131.11.2United Arab Emirates1Likely PathogenicAlpha-ThalassemiaEl-Kalla and Baysal, 1998 Identified through testing 418 consecuti...
604131.11.G.2United Arab Emirates2Likely PathogenicEl-Kalla and Baysal, 1998 2 heterozygotes identified through testi...
613978.1.G.3United Arab Emirates4Likely PathogenicHemoglobin H DiseaseEl-Kalla and Baysal, 1998 2 Emirati brothers
613978.1.G.5United Arab Emirates3Likely PathogenicHemoglobin H DiseaseEl-Kalla and Baysal, 1998 3 Emirati patients
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Contributors

  • Sayeeda Hana: 24.11.2020

Edit History

  • Pratibha Nair: 25.01.2023
  • Pratibha Nair: 23.08.2022
  • Sayeeda Hana: 25.08.2021
  • Sayeeda Hana: 24.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.