NM_000053.3:c.3683G>C

HGVS Expressions

  • NG_008806.1:g.77428G>C
  • NM_000053.3:c.3683G>C
  • NP_000044.2:p.Arg1228Thr
  • NC_000013.11:g.51939067C>G
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.29Egypt2PathogenicWilson DiseaseAbdelghaffar et al. 2008 Wilson Disease
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