NM_001673.4:c.146G>A

HGVS Expressions

  • NG_033870.2:g.64552G>A
  • NM_001673.4:c.146G>A
  • NP_001664.3:p.Arg49Gln
  • NC_000007.14:g.97869011C>T

Associated Genes

Asparagine Synthetase
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

383733

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615574.2United Arab Emirates2PathogenicAsparagine Synthetase DeficiencySaleh et al. 2021 Affected cousin
615574.3United Arab Emirates2PathogenicAsparagine Synthetase DeficiencySaleh et al. 2021
615574.4.1United Arab Emirates2PathogenicAsparagine Synthetase DeficiencySacharow et al. 2018
615574.4.2United Arab Emirates2PathogenicAsparagine Synthetase DeficiencySacharow et al. 2018 Sister of 615574.4.1
© CAGS 2024. All rights reserved.