NM_000048.4:c.1060C>T

  1. Home
  2. 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
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

367543005

Clinvar

21253

Epidemiology in the Arab World

View Map
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
608310.G.4Qatar80.037PathogenicDevadoss Gandhi et al. 2024 8 individuals from a study of 14,060 Qat...
Download Table

Contributors

    Edit History

    • Sayeeda Hana: 20.11.2024
    • Asha Deepthi: 04.03.2021
    • Asha Deepthi: 21.02.2019
    Back to search Result
    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.