NM_000053.3:c.4021G>A

HGVS Expressions

  • NG_008806.1:g.79219G>A
  • NM_000053.3:c.4021G>A
  • NP_000044.2:p.Gly1341Ser
  • NC_000013.11:g.51937276C>T
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

157955

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.33Saudi Arabia2PathogenicWilson DiseaseMajumdar et al. 2004
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