NM_000053.3:c.1924G>C

HGVS Expressions

  • NG_008806.1:g.54636G>C
  • NM_000053.3:c.1924G>C
  • NP_000044.2:p.Asp642His
  • NC_000013.11:g.51961859C>G
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

189109

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.3Egypt2PathogenicWilson DiseaseAbdel Ghaffar et al. 2011
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