NM_001673.5:c.28A>C

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HGVS Expressions

  • NG_033870.2:g.64434A>C
  • NM_001673.5:c.28A>C
  • NP_001664.3:p.Ser10Arg
  • NC_000007.14:g.97869129T>G

Associated Genes

Asparagine Synthetase
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615574.12Saudi 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.