NM_002354.3:c.394G>T

  1. Home
  2. NM_002354.3:c.394G>T

HGVS Expressions

  • NG_012352.2:g.33855G>T
  • NM_002354.3:c.394G>T
  • NP_002345.2:p.Glu132Ter
  • NC_000002.12:g.47374017G>T

Associated Genes

Epithelial Cellular Adhesion Molecule
Back to search Result
CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613217.12Egypt2Likely PathogenicDiarrhea 5, with Tufting Enteropathy, CongenitalPathak et al. 2019; Salomon et al. 2014
Download Table

Contributors

  • Pratibha Nair: 09.10.2023

Edit History

  • Pratibha Nair: 09.10.2023
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.