NM_001673.5:c.1193A>G

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HGVS Expressions

  • NG_033870.2:g.78938A>G
  • NM_001673.5:c.1193A>G
  • NP_001664.3:p.Tyr398Cys
  • NC_000007.14:g.97854625T>C

Associated Genes

Asparagine Synthetase
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1166271142

Clinvar

800997

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615574.5Saudi Arabia2PathogenicAsparagine Synthetase DeficiencyShaheen et al. 2019
615574.8.1Saudi Arabia2PathogenicAsparagine Synthetase DeficiencyShaheen et al. 2019
615574.8.2Saudi Arabia2PathogenicAsparagine Synthetase DeficiencyShaheen et al. 2019 Relative of 615574.8.1
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Contributors

  • Sayeeda Hana: 24.01.2022

Edit History

  • Sayeeda Hana: 25.01.2022
  • Sayeeda Hana: 24.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.