NM_000053.3:c.2997insC

  1. Home
  2. NM_000053.3:c.2997insC

HGVS Expressions

  • NG_008806.1:g.70148insC
  • NM_000053.3:c.2997insC
  • NP_000044.2:p.Gly1000fs

Associated Genes

ATPase, Cu(2+)-Transporting, Beta Polypeptide
Back to search Result
Genomic Location

Chr13:51946347

CTGA Clinical Significance

Pathogenic

Variant Type

Insertion

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.7Egypt2PathogenicWilson DiseaseAbdel Ghaffar et al. 2011
Download Table

Contributors

  • Pratibha Nair: 13.06.2018

Edit History

  • Rahila Mir: 22.02.2022
  • Pratibha Nair: 27.12.2018
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.