NM_000048.4:c.544C>T

HGVS Expressions

  • NG_009288.1:g.15975C>T
  • NM_000048.4:c.544C>T
  • NP_000039.2:p.Arg182Ter
  • NC_000007.14:g.66086763C>T

Associated Genes

Argininosuccinate Lyase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

92362

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
207900.5Saudi Arabia2NAPathogenicArgininosuccinic AciduriaImtiaz et al. 2010
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