HGVS Expressions

  • NG_009288.1:g.21236G>T
  • NM_000048.4:c.1081G>T
  • NP_000039.2:p.Gly361Ter
  • NC_000007.14:g.66092024G>T

Associated Genes

Argininosuccinate Lyase
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CTGA Clinical Significance

Likely Pathogenic

Variant Type


Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
207900.6Saudi Arabia2NALikely PathogenicArgininosuccinic AciduriaImtiaz et al. 2010
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