NM_000053.4:c.2304dup

HGVS Expressions

  • NG_008806.1:g.58133dup
  • NM_000053.4:c.2304dup
  • NP_000044.2:p.Met769HisfsTer26
  • NC_000013.11:g.51958367dup
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Clinvar

456552

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.4Egypt2PathogenicWilson DiseaseAbdel Ghaffar et al. 2011
277900.22Egypt2PathogenicWilson DiseaseAbdelghaffar et al. 2008 Wilson Disease
277900.23Egypt1PathogenicWilson DiseaseAbdelghaffar et al. 2008 Wilson Disease
277900.34.1Lebanon2PathogenicWilson DiseaseUsta et al, 2014
277900.34.2Lebanon2PathogenicWilson DiseaseUsta et al, 2014 Relative of 277900.34.1
277900.34.3Lebanon1PathogenicWilson DiseaseUsta et al, 2014 Relative of 277900.34.1
277900.34.4Lebanon1PathogenicWilson DiseaseUsta et al, 2014 Relative of 277900.34.1
277900.34.5Lebanon1PathogenicWilson DiseaseUsta et al, 2014 Relative of 277900.34.1
277900.34.6Lebanon1PathogenicWilson DiseaseUsta et al, 2014 Relative of 277900.34.1
277900.34.7Lebanon2PathogenicWilson DiseaseUsta et al, 2014 Relative of 277900.34.1
277900.34.8Lebanon2PathogenicWilson DiseaseUsta et al, 2014 Relative of 277900.34.1
277900.34.9Lebanon2PathogenicWilson DiseaseUsta et al, 2014 Relative of 277900.34.1
277900.36Lebanon2PathogenicWilson DiseaseBarada et al. 2017
277900.34.G.1Lebanon27PathogenicUsta et al, 2014 Unaffected carriers belonging to the sam...
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