NM_001558.3:c.421G>A

HGVS Expressions

  • NG_016275.1:g.11904G>A
  • NM_001558.3:c.421G>A
  • NP_001549.2:p.Gly141Arg
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Genomic Location

chr11:117993294

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

14814

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613148.1Lebanon2PathogenicInflammatory Bowel Disease 28, Autosomal RecessiveGlocker et al, 2009
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