NM_000053.3:c.4195del

HGVS Expressions

  • NG_008806.1:g.81536del
  • NM_000053.3:c.4195del
  • NP_000044.2:p.Gln1399ArgfsTer6
  • NC_000013.11:g.51934961del
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

280040

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.G.18Saudi Arabia2Likely PathogenicMajumdar et al. 2000 Four patients with Wilson Disease
277900.G.19.1Saudi Arabia32Likely PathogenicWilson DiseaseMajumdar et al. 2003 16 patients with Wilson Disease
277900.G.19.2Saudi Arabia32Likely PathogenicMajumdar et al. 2003 32 parents and 15 siblings of patients w...
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