NM_000048.4:c.1275C>T

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HGVS Expressions

  • NG_009288.1:g.22004C>T
  • NM_000048.4:c.1275C>T
  • NP_000039.2:p.Ile425=
  • NC_000007.14:g.66092792C>T

Associated Genes

Argininosuccinate Lyase
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Clinvar Clinical Significance

Likely Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

771218861

Clinvar

799316

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
207900.10Arab2NAUncertain SignificanceArgininosuccinic 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.