NM_005331.4(HBQ1):c.-16686_-286del

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HGVS Expressions

  • NG_000006.1:g.24664_41064del16401
  • NM_005331.4(HBQ1):c.-16686_-286del
  • NC_000016.10:g.163801_180201del

Associated Genes

Hemoglobin - Alpha Locus 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Deletion

Clinvar

38633

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613978.1.1Oman1Likely PathogenicHemoglobin H DiseaseEl-Kalla and Baysal, 1998
604131.G.5LebanonPathogenicAlpha-ThalassemiaFarra et al. 2015 4 Lebanese patients
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Contributors

  • Sayeeda Hana: 13.01.2021

Edit History

  • Pratibha Nair: 06.02.2023
  • Sayeeda Hana: 25.08.2021
  • Sami Bizzari: 01.06.2021
  • Sayeeda Hana: 13.01.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.