NM_001875.4:c.1590dup

HGVS Expressions

  • NG_008285.1:g.127911dup
  • NM_001875.4:c.1590dup
  • NP_001866.2:p.Val531CysfsTer9
  • NC_000002.12:g.210600595dup
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CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
237300.2United Arab Emirates2PathogenicCarbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia due toAl-Shamsi et al. 2014
237300.3Oman2Likely PathogenicCarbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia due toBen-Rebeh et al. 2012
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