NM_000053.3:c.2532delA

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HGVS Expressions

  • NG_008806.1:g.66180del
  • NM_000053.3:c.2532delA
  • NP_000044.2:p.Val845SerfsTer28
  • NC_000013.11:g.51950317del

Associated Genes

ATPase, Cu(2+)-Transporting, Beta Polypeptide
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

755709270

Clinvar

188883

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.35Lebanon2PathogenicWilson DiseaseBarada et al. 2017
277900.G.4Egypt4PathogenicWilson DiseaseAbdel Ghaffar et al. 2011 2 patients
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Contributors

  • Pratibha Nair: 14.05.2020
  • Pratibha Nair: 13.06.2018

Edit History

  • Pratibha Nair: 12.10.2022
  • Sayeeda Hana: 17.09.2020
  • Pratibha Nair: 14.05.2020
  • Pratibha Nair: 30.12.2018
  • Pratibha Nair: 27.12.2018
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© CAGS 2024. All rights reserved.