NM_054012.4:c.685_688+6del

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HGVS Expressions

  • NG_011542.1:g.37252_37261del
  • NM_054012.4:c.685_688+6del
  • NP_446464.1:p.Lys229Glyfs*4
  • NC_000009.12:g.130476958_130476967del

Associated Genes

Argininosuccinate Synthetase 1
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
215700.3.1Syria2PathogenicCitrullinemia, ClassicDaou et al. 2023
215700.3.2Syria1Daou et al. 2023 Father of 215700.3.1
215700.3.3Lebanon; Syria1Daou et al. 2023 Mother of 215700.3.1
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Contributors

  • Sayeeda Hana: 08.01.2025

Edit History

  • Sayeeda Hana: 10.01.2025
  • Sayeeda Hana: 08.01.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.