NM_001673.5:c.1219C>T

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HGVS Expressions

  • NG_033870.2:g.78964C>T
  • NM_001673.5:c.1219C>T
  • NP_001664.3:p.Arg407Ter
  • NC_000007.14:g.97854599G>A

Associated Genes

Asparagine Synthetase
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1140424

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615574.9Saudi Arabia2PathogenicAsparagine Synthetase DeficiencyShaheen et al. 2019
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Contributors

  • Sayeeda Hana: 24.01.2022

Edit History

  • 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.