NM_000048.4:c.857A>G

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HGVS Expressions

  • NG_009288.1:g.18326A>G
  • NM_000048.4:c.857A>G
  • NP_000039.2:p.Gln286Arg
  • NC_000007.14:g.66089114A>G

Associated Genes

Argininosuccinate Lyase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

28941472

Clinvar

2399

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608310.1Qatar10.009PathogenicDevadoss Gandhi et al. 2024 1 individual from a study of 14,060 Qata...
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Contributors

  • Sayeeda Hana: 19.11.2024

Edit History

  • Sayeeda Hana: 20.11.2024
  • Sayeeda Hana: 19.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.