NM_002354.3:c.38_62dup

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HGVS Expressions

  • NM_002354.3:c.38_62dup
  • NP_002345.2:p.Ala22CysfsTer17
  • NC_000002.12:g.47369543_47369567dup

Associated Genes

Epithelial Cellular Adhesion Molecule
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613217.3Palestine1Likely PathogenicDiarrhea 5, with Tufting Enteropathy, CongenitalPathak et al. 2019
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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.