NM_000053.3:c.3809A>G

HGVS Expressions

  • NG_008806.1:g.78925A>G
  • NM_000053.3:c.3809A>G
  • NP_000044.2:p.Asn1270Ser
  • NC_000013.11:g.51937570T>C
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

3859

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.37.1Lebanon2PathogenicWilson DiseaseBarada et al. 2017
277900.37.2Lebanon2PathogenicWilson DiseaseBarada et al. 2017 Sibling of 277900.37.1
277900.38Lebanon2PathogenicWilson DiseaseBarada et al. 2017
277900.41.1Lebanon2PathogenicWilson DiseaseBarada et al. 2017
277900.41.2Lebanon2PathogenicWilson DiseaseBarada et al. 2017 Sibling of 277900.41.1
277900.41.3Lebanon2PathogenicWilson DiseaseBarada et al. 2017 Sibling of 277900.41.1
277900.G.9Egypt4PathogenicWilson DiseaseAbdel Ghaffar et al. 2011 2 patients
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