NM_004963.3:c.2008G>A

HGVS Expressions

  • NG_052021.1:g.60444G>A
  • NM_004963.3:c.2008G>A
  • NP_004954.2:p.Ala670Thr

Associated Genes

Guanylate Cyclase 2C
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Genomic Location

chr12:14641142

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

161158

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614665.1.2Lebanon1PathogenicMeconium IleusSmith et al, 2015 Brother of 614665.1.1
614665.1.5Lebanon1PathogenicSmith et al, 2015 Unaffected mother of 614665.1.1
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