NM_000053.3:c.2993G>A

HGVS Expressions

  • NG_008806.1:g.70144G>A
  • NM_000053.3:c.2993G>A
  • NP_000044.2:p.Gly998Asp
  • NC_000013.11:g.51946351C>T
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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
277900.6Egypt2PathogenicWilson DiseaseAbdel Ghaffar et al. 2011
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