NM_002354.3:c.579del

  1. Home
  2. NM_002354.3:c.579del

HGVS Expressions

  • NG_012352.2:g.38814del
  • NM_002354.3:c.579del
  • NP_002345.2:p.Ile193MetfsTer17
  • NC_000002.12:g.47378976del

Associated Genes

Epithelial Cellular Adhesion Molecule
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
613217.1.1Palestine2Likely PathogenicDiarrhea 5, with Tufting Enteropathy, CongenitalPathak et al. 2019 Patient is of Bedouin origin
613217.1.2Palestine2Likely PathogenicDiarrhea 5, with Tufting Enteropathy, CongenitalPathak et al. 2019 Sister of 613217.1.1
Download Table

Contributors

  • Asha Deepthi: 12.04.2021

Edit History

  • Pratibha Nair: 09.10.2023
  • Asha Deepthi: 12.04.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.