Hb Lepore-Boston-Washington NG_000007.3:g.63632_71046del

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HGVS Expressions

  • NG_000007.3:g.63632_71046del
  • NC_000011.10:g.5226570_5233984del

Associated Genes

Hemoglobin - Beta Locus; Hemoglobin--Delta Locus
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

15061

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.24.3Syria20.07PathogenicFetal Hemoglobin Quantitative Trait Locus 1Farra et al. 2021 Mutation identified in 18 Syrian patient...
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Contributors

  • Asha Deepthi: 30.07.2024

Edit History

  • Asha Deepthi: 30.07.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.