NM_000053.4:c.3275C>T

  1. Home
  2. NM_000053.4:c.3275C>T

HGVS Expressions

  • NG_008806.1:g.73972C>T
  • NM_000053.4:c.3275C>T
  • NP_000044.2:p.Thr1092Met

Associated Genes

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

chr13:51942523

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

368545738

Clinvar

312382

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.40Lebanon1PathogenicWilson DiseaseBarada et al. 2017
Download Table

Contributors

  • Pratibha Nair: 14.05.2020

Edit History

  • Pratibha Nair: 14.05.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.