NM_000048.4:c.1135C>T

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HGVS Expressions

  • NG_009288.1:g.21290C>T
  • NM_000048.4:c.1135C>T
  • NP_000039.2:p.Arg379Cys
  • NC_000007.14:g.66092078C>T

Associated Genes

Argininosuccinate Lyase
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

28940287

Clinvar

2403

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
207900.10Arab2NALikely PathogenicArgininosuccinic AciduriaLinnebank et al. 2002 'Patient 892' 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.