NM_002354.3:c.380C>T

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HGVS Expressions

  • NG_012352.2:g.33841C>T
  • NM_002354.3:c.380C>T
  • NP_002345.2:p.Thr127Ile
  • NC_000002.12:g.47374003C>T

Associated Genes

Epithelial Cellular Adhesion Molecule
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

863224711

Clinvar

216556

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613217.11Algeria1Likely PathogenicDiarrhea 5, with Tufting Enteropathy, CongenitalPathak et al. 2019; Salomon et al. 2014 Second mutation in the gene in this pati...
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Contributors

  • Pratibha Nair: 09.10.2023

Edit History

  • Pratibha Nair: 09.10.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.