NM_002354.3:c.412C>T

HGVS Expressions

  • NG_012352.2:g.33873C>T
  • NM_002354.3:c.412C>T
  • NP_002345.2:p.Arg138Ter
  • NC_000002.12:g.47374035C>T
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

40256

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613217.8Saudi Arabia2Likely PathogenicDiarrhea 5, with Tufting Enteropathy, CongenitalPathak et al. 2019; AlMahamed & Hammo. 2017
© CAGS 2024. All rights reserved.