NM_001875.4:c.4101+2T>C

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  2. NM_001875.4:c.4101+2T>C

HGVS Expressions

  • NG_008285.1:g.195602T>C
  • NM_001875.4:c.4101+2T>C
  • NP_001866.2:p.?
  • NC_000002.12:g.210668286T>C

Associated Genes

Carbamoyl Phosphate Synthetase I
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

767575696

Clinvar

552974

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
237300.1.3Lebanon1PathogenicKlaus et al, 2009 Mother of 237300.1.1; Daughter of 237300...
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Contributors

  • Pratibha Nair: 28.10.2018

Edit History

  • Asha Deepthi: 24.11.2022
  • Sami Bizzari: 01.06.2021
  • Pratibha Nair: 15.01.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.