NM_004963.3:c.2782T>C

HGVS Expressions

  • NG_052021.1:g.82282T>C
  • NM_004963.3:c.2782T>C
  • NP_004954.2:p.Cys928Arg

Associated Genes

Guanylate Cyclase 2C
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Genomic Location

chr12:14619304 

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

161159

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614665.1.1Lebanon2PathogenicMeconium IleusSmith et al, 2015 Proband
614665.1.2Lebanon1PathogenicMeconium IleusSmith et al, 2015 Brother of 614665.1.1
614665.1.3Lebanon1PathogenicSmith et al, 2015 Unaffected brother of 614665.1.1
614665.1.4Lebanon1PathogenicSmith et al, 2015 Unaffected father of 614665.1.1
614665.1.5Lebanon1PathogenicSmith et al, 2015 Unaffected mother of 614665.1.1
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