NM_002354.3:c.394G>T

HGVS Expressions

  • NG_012352.2:g.33855G>T
  • NM_002354.3:c.394G>T
  • NP_002345.2:p.Glu132Ter
  • NC_000002.12:g.47374017G>T
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613217.12Egypt2Likely PathogenicDiarrhea 5, with Tufting Enteropathy, CongenitalPathak et al. 2019; Salomon et al. 2014
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