NM_001673.5:c.1211G>A

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HGVS Expressions

  • NG_033870.2:g.78956G>A
  • NM_001673.5:c.1211G>A
  • NP_001664.3:p.Arg404His
  • NC_000007.14:g.97854607C>T

Associated Genes

Asparagine Synthetase
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

774808316

Clinvar

1252063

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615574.7Saudi Arabia2PathogenicAsparagine Synthetase DeficiencyShaheen et al. 2019
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Contributors

  • Sayeeda Hana: 24.01.2022

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 07.02.2022
  • Sayeeda Hana: 25.01.2022
  • Sayeeda Hana: 24.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.