NM_000048.4:c.485A>G

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HGVS Expressions

  • NG_009288.1:g.15835A>G
  • NM_000048.4:c.485A>G
  • NP_000039.2:p.Gln162Arg
  • NC_000007.14:g.66086623A>G

Associated Genes

Argininosuccinate Lyase
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1554327025

Clinvar

557829

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
207900.17Saudi Arabia2Likely PathogenicArgininosuccinic AciduriaMonies et al. 2017
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Contributors

  • Asha Deepthi: 04.12.2024

Edit History

  • Asha Deepthi: 04.12.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.