NM_000048.4:c.1060C>T

HGVS Expressions

  • NG_009288.1:g.18905C>T
  • NM_000048.4:c.1060C>T
  • NP_000039.2:p.Gln354Ter
  • NC_000007.14:g.66089693C>T

Associated Genes

Argininosuccinate Lyase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

21253

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
207900.7.1Saudi Arabia2NAPathogenicArgininosuccinic AciduriaAl-Sayed et al. 2005 'Patient 1' in the publication
207900.7.2Saudi Arabia2NAPathogenicArgininosuccinic AciduriaAl-Sayed et al. 2005 Patient 2' in the publication, sister of...
207900.G.1.1Saudi Arabia30NAPathogenicArgininosuccinic AciduriaImtiaz et al. 2010 Group of 15 patients
207900.G.2Saudi Arabia30NAPathogenicArgininosuccinic AciduriaAl-Sayed et al. 2005 Group of 14 patients
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