NM_000048.4:c.1143+5G>C

HGVS Expressions

  • NG_009288.1:g.21303G>C
  • NM_000048.4:c.1143+5G>C
  • NC_000007.14:g.66092091G>C

Associated Genes

Argininosuccinate Lyase
Back to search Result
CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
207900.4Saudi Arabia2NALikely PathogenicArgininosuccinic AciduriaImtiaz et al. 2010
© CAGS 2024. All rights reserved.