NM_032132.5:c.260_262del

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HGVS Expressions

  • NM_032132.5:c.260_262del
  • NP_115508.2:p.Asp87del
  • NC_000001.11:g.150714105_150714107del

Associated Genes

HORMA Domain-Containing Protein 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
258150.11Saudi Arabia2Likely PathogenicAlhathal et al. 2020
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Contributors

  • Pratibha Nair: 16.03.2023

Edit History

  • Pratibha Nair: 16.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.