NM_001374377.1:c.1195G>C

HGVS Expressions

  • NG_012833.1:g.38146G>C
  • NM_001374377.1:c.1195G>C
  • NP_001361306.1:p.Asp399His
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Genomic Location

chr15:80186144

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

553045

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
276700.8Saudi Arabia2PathogenicTyrosinemia, Type IImtiaz et al. 2011
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