NM_000053.3:c.3207C>T

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HGVS Expressions

  • NG_008806.1:g.72350C>T
  • NM_000053.3:c.3207C>T
  • NP_000044.2:p.His1069=
  • NC_000013.11:g.51944145G>A

Associated Genes

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

Pathogenic

Variant Type

Substitution

dbSNP

76151636

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.24Egypt1PathogenicWilson DiseaseAbdelghaffar et al. 2008 Wilson Disease
277900.G.16Egypt6PathogenicWilson DiseaseAbdelghaffar et al. 2008 3 patients with Wilson Disease
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Contributors

  • Pratibha Nair: 13.06.2018

Edit History

  • Pratibha Nair: 08.11.2022
  • Pratibha Nair: 12.10.2022
  • Pratibha Nair: 30.12.2018
  • Pratibha Nair: 27.12.2018
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.