NM_000053.3:c.3904-2A>G

HGVS Expressions

  • NG_008806.1:g.79100A>G
  • NM_000053.3:c.3904-2A>G
  • NP_000044.2:p.?
  • NC_000013.11:g.51937395T>C
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

371387

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.18Egypt2PathogenicWilson DiseaseAbdel Ghaffar et al. 2011
277900.19Egypt2PathogenicWilson DiseaseAbdel Ghaffar et al. 2011
277900.G.8Egypt4PathogenicWilson DiseaseAbdel Ghaffar et al. 2011 2 patients
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