NM_000050.4:c.1168G>A

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  2. NM_000050.4:c.1168G>A

HGVS Expressions

  • NG_011542.1:g.59839G>A
  • NM_000050.4:c.1168G>A
  • NP_000041.2:p.Gly390Arg

Associated Genes

Argininosuccinate Synthetase 1
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Genomic Location

chr9:130499545

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121908641

Clinvar

6329

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
215700.1.1Morocco2PathogenicCitrullinemia, ClassicVilaseca et al. 2001 Case 1 in the publication
215700.1.2Morocco2PathogenicCitrullinemia, ClassicVilaseca et al. 2001 Brother of 215700.1.1, case 2 in the pub...
215700.G.10Iraq4+PathogenicCitrullinemia, ClassicDaou et al. 2023 Family with unknown number of affected m...
603470.G.2Qatar90.056PathogenicDevadoss Gandhi et al. 2024 9 individuals from a study of 14,060 Qat...
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Contributors

    Edit History

    • Sayeeda Hana: 10.01.2025
    • Sayeeda Hana: 20.11.2024
    • Asha Deepthi: 08.07.2020
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    © CAGS 2025. All rights reserved.