NG_000007.3:g.71609_72227del

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HGVS Expressions

  • NG_000007.3:g.71609_72227del
  • NC_000011.10:g.5225389_5226007del

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

1847516043

Clinvar

38701

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.G.19United Arab EmiratesNANALikely PathogenicBeta-ThalassemiaDe Leo et al. 1995 Mutations identified in 35 unrelated β-t...
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Contributors

  • Asha Deepthi: 14.09.2021

Edit History

  • Sami Bizzari: 28.03.2022
  • Asha Deepthi: 14.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.