NM_001673.5:c.1193A>C

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HGVS Expressions

  • NG_033870.2:g.78938A>C
  • NM_001673.5:c.1193A>C
  • NP_001664.3:p.Tyr398Ser
  • NC_000007.14:g.97854625T>G

Associated Genes

Asparagine Synthetase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1166271142

Clinvar

1456043

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615574.1United Arab Emirates2Likely PathogenicAsparagine Synthetase DeficiencyBen-Salem et al. 2015
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Contributors

  • Sayeeda Hana: 21.06.2021

Edit History

  • Pratibha Nair: 10.11.2022
  • Sayeeda Hana: 24.01.2022
  • Pratibha Nair: 05.10.2021
  • Sayeeda Hana: 21.06.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.