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

  1. Home
  2. 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
Download Table

Contributors

    Edit History

    • Asha Deepthi: 04.03.2021
    • Asha Deepthi: 21.02.2019
    Back to search Result
    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.