NM_000396.3:c.338del

  1. Home
  2. NM_000396.3:c.338del

HGVS Expressions

  • NG_011848.1:g.7415del
  • NM_000396.3:c.338del
  • NP_000387.1:p.Gly113ValfsTer48
  • NC_000001.11:g.150805923del

Associated Genes

Cathepsin K
Back to search Result
CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
265800.2.1United Arab Emirates2Likely PathogenicPycnodysostosisSulaiman et al. 2021 Proband
Download Table

Contributors

  • Sami Bizzari: 17.02.2022

Edit History

  • Sami Bizzari: 17.02.2022
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.