NM_006726.4:c.534del

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HGVS Expressions

  • NG_032855.1:g.91967del
  • NM_006726.4:c.534del
  • NP_006717.2:p.Asp179IlefsTer16
  • NC_000004.12:g.150928531del

Associated Genes

Lipopolysaccharide-Responsive, Beige-Like Anchor Protein
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Clinvar Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

1687335

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605988.GUnited Arab EmiratesAlmarzooqi et al. 2021 Study on symptomatic and asymptomatic Em...
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Contributors

  • Sami Bizzari: 20.07.2022

Edit History

  • Sami Bizzari: 26.07.2022
  • Sami Bizzari: 20.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.