NM_001875.4:c.1590dup

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HGVS Expressions

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

Associated Genes

Carbamoyl Phosphate Synthetase I
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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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Contributors

  • Pratibha Nair: 28.10.2018

Edit History

  • Asha Deepthi: 25.11.2022
  • Sami Bizzari: 18.10.2022
  • Pratibha Nair: 23.08.2022
  • Rahila Mir: 14.02.2022
  • Sayeeda Hana: 24.05.2021
  • Pratibha Nair: 15.01.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.