NM_000053.3:c.3955C>T

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HGVS Expressions

  • NG_008806.1:g.79153C>T
  • NM_000053.3:c.3955C>T
  • NP_000044.2:p.Arg1319Ter
  • NC_000013.11:g.51937342G>A

Associated Genes

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

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

193922109

Clinvar

35728

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.20Egypt2PathogenicWilson DiseaseAbdel Ghaffar et al. 2011
277900.39Lebanon2PathogenicWilson DiseaseBarada et al. 2017
277900.40Lebanon1PathogenicWilson DiseaseBarada et al. 2017
277900.G.12Egypt2PathogenicWilson 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
  • Pratibha Nair: 14.05.2020
  • Pratibha Nair: 30.12.2018
  • Pratibha Nair: 27.12.2018
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.