NM_000048.4:c.343G>T

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HGVS Expressions

  • NG_009288.1:g.12143G>T
  • NM_000048.4:c.343G>T
  • NP_000039.2:p.Asp115Tyr
  • NC_000007.14:g.66082931G>T

Associated Genes

Argininosuccinate Lyase
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

756692067

Clinvar

NA

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
207900.1Saudi Arabia1NALikely PathogenicArgininosuccinic AciduriaImtiaz et al. 2010 Compound heterozygous patient
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Contributors

    Edit History

    • Precise Support: 08.11.2022
    • Asha Deepthi: 04.03.2021
    • Asha Deepthi: 21.02.2019
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    © CAGS 2024. All rights reserved.