NM_002354.3:c.499dup

HGVS Expressions

  • NG_012352.2:g.36859dup
  • NM_002354.3:c.499dup
  • NP_002345.2:p.Gln167ProfsTer21
  • NC_000002.12:g.47377021dup
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

Clinvar

12774

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613217.5Saudi Arabia2Likely PathogenicDiarrhea 5, with Tufting Enteropathy, CongenitalPathak et al. 2019; AlMahamed & Hammo. 2017
613217.6Saudi Arabia2Likely PathogenicDiarrhea 5, with Tufting Enteropathy, CongenitalPathak et al. 2019; AlMahamed & Hammo. 2017
613217.14Kuwait1Likely PathogenicDiarrhea 5, with Tufting Enteropathy, CongenitalPathak et al. 2019; Salomon et al. 2014
613217.15.1Kuwait1Likely PathogenicDiarrhea 5, with Tufting Enteropathy, CongenitalPathak et al. 2019; Salomon et al. 2014
613217.15.2Kuwait1Likely PathogenicDiarrhea 5, with Tufting Enteropathy, CongenitalSalomon et al. 2011; Pathak et al. 2019 Relative of 613217.15.1
613217.16.1Kuwait2Likely PathogenicDiarrhea 5, with Tufting Enteropathy, CongenitalPathak et al. 2019; Salomon et al. 2014
613217.16.2Kuwait2Likely PathogenicDiarrhea 5, with Tufting Enteropathy, CongenitalPathak et al. 2019; Salomon et al. 2014 Relative of 613217.16.1
613217.17.1Kuwait2Likely PathogenicDiarrhea 5, with Tufting Enteropathy, CongenitalPathak et al. 2019; Salomon et al. 2014
613217.17.2Kuwait2Likely PathogenicDiarrhea 5, with Tufting Enteropathy, CongenitalPathak et al. 2019; Salomon et al. 2014 Relative of 613217.17.1
613217.18.1Qatar2Likely PathogenicDiarrhea 5, with Tufting Enteropathy, CongenitalPathak et al. 2019; Salomon et al. 2014
613217.18.2Qatar2Likely PathogenicDiarrhea 5, with Tufting Enteropathy, CongenitalPathak et al. 2019; Salomon et al. 2014 Relative of 613217.18.1
613217.G.1Saudi Arabia8Likely PathogenicDiarrhea 5, with Tufting Enteropathy, CongenitalPathak et al. 2019; Al-Mayouf et al. 2009 2 males and 2 families from 2 unrelated ...
613217.G.2Kuwait6Likely PathogenicDiarrhea 5, with Tufting Enteropathy, CongenitalPathak et al. 2019; Salomon et al. 2014 Group of three unrelated patients. 2 fem...
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