NM_000053.3:c.3818C>T

HGVS Expressions

  • NG_008806.1:g.78934C>T
  • NM_000053.3:c.3818C>T
  • NP_000044.2:p.Pro1273Leu
  • NC_000013.11:g.51937561G>A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

189139

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.42.1Lebanon2PathogenicWilson DiseaseBarada et al. 2017
277900.42.2Lebanon2PathogenicWilson DiseaseBarada et al. 2017 Sibling of 277900.42.1
277900.G.10Egypt4PathogenicWilson DiseaseAbdel Ghaffar et al. 2011 3 patients
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