NM_006755.2:c.574C>T

HGVS Expressions

  • NG_008160.1:g.21025C>T
  • NM_006755.2:c.574C>T
  • NP_006746.1:p.Arg192Cys
  • NC_000011.10:g.763456C>T

Associated Genes

Transaldolase 1
Back to search Result
Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic, Risk factor

Variant Type

Substitution

Clinvar

381759

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606003.1.1United Arab Emirates2PathogenicTransaldolase DeficiencyAl-Shamsi et al. 2014 Belongs to a tribe of Saudi Arabian orig...
606003.1.2United Arab Emirates2PathogenicTransaldolase DeficiencyAl-Shamsi et al. 2014 Paternal aunt of 606003.1.1
606003.2United Arab Emirates2Pathogenic, Risk factorHepatocellular Carcinoma; Transaldolase DeficiencyAl-Shamsi et al. 2014; Grammatikopoulos et al. 2022 Belongs to a tribe of Saudi Arabian orig...
606003.3United Arab Emirates2PathogenicTransaldolase DeficiencyAl-Shamsi et al. 2014 Belongs to a tribe of Saudi Arabian orig...
© CAGS 2024. All rights reserved.