NM_002354.3:c.352_368del

HGVS Expressions

  • NM_002354.3:c.352_368del
  • NP_002345.2:p.Cys118GlyfsTer9
  • NC_000002.12:g.47373975_47373991del
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
613217.9.1Morocco2Likely PathogenicDiarrhea 5, with Tufting Enteropathy, CongenitalPathak et al. 2019; Salomon et al. 2014
613217.9.2Morocco2Likely PathogenicDiarrhea 5, with Tufting Enteropathy, CongenitalPathak et al. 2019; Salomon et al. 2014 Sibling of 613217.9.1
© CAGS 2024. All rights reserved.