NM_000048.4:c.1135C>G

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  2. NM_000048.4:c.1135C>G

HGVS Expressions

  • NG_009288.1:g.21290C>G
  • NM_000048.4:c.1135C>G
  • NP_001020115.1:p.Arg359Cys
  • NC_000007.14:g.66092078C>G

Associated Genes

Argininosuccinate Lyase
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

28940287

Clinvar

2196834

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
207900.16Saudi Arabia2Likely PathogenicArgininosuccinic AciduriaMonies et al. 2019 Brother with cerebellar hypoplasia
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Contributors

  • Pratibha Nair: 21.11.2023

Edit History

  • Pratibha Nair: 22.11.2023
  • Pratibha Nair: 21.11.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.