NM_000048.4:c.346C>T

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HGVS Expressions

  • NG_009288.1:g.12146C>T
  • NM_000048.4:c.346C>T
  • NP_000039.2:p.Gln116Ter
  • NC_000007.14:g.66082934C>T

Associated Genes

Argininosuccinate Lyase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

367543006

Clinvar

21254

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
207900.11Arab2NALikely PathogenicArgininosuccinic AciduriaLinnebank et al. 2002 'Patient 893' in the publication
207900.12Arab2NALikely PathogenicArgininosuccinic AciduriaLinnebank et al. 2002 'Patient 894' in the publication
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Contributors

    Edit History

    • Asha Deepthi: 04.03.2021
    • Asha Deepthi: 21.02.2019
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.