NM_001875.4:c.3558+1G>C

HGVS Expressions

  • NG_008285.1:g.181419G>C
  • NM_001875.4:c.3558+1G>C
  • NP_001866.2:p.?
  • NC_000002.12:g.210654103G>C
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

30720

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
237300.1.1Lebanon1PathogenicCarbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia due toKlaus et al, 2009
237300.1.2Lebanon1PathogenicCarbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia due toKlaus et al, 2009 Grandfather of 237300.1.1
237300.1.4Lebanon1PathogenicKlaus et al, 2009 Father of 237300.1.1
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