NM_001673.5:c.1137+1G>A

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HGVS Expressions

  • NG_033870.2:g.78211G>A
  • NM_001673.5:c.1137+1G>A
  • NC_000007.14:g.97855352C>T

Associated Genes

Asparagine Synthetase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1791383191

Clinvar

993020

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615574.10Saudi Arabia2PathogenicAsparagine Synthetase DeficiencyShaheen et al. 2019
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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.