NM_006755.2:c.793del

HGVS Expressions

  • NG_008160.1:g.21471del
  • NM_006755.2:c.793del
  • NP_006746.1:p.Gln265fs

Associated Genes

Transaldolase 1
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Genomic Location

chr11:763902

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

162622

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606003.4.1Saudi Arabia2PathogenicTransaldolase DeficiencyEyaid et al. 2013
606003.4.2Saudi Arabia2PathogenicTransaldolase DeficiencyEyaid et al. 2013 Sibling of 606003.4.1
606003.4.3Saudi Arabia2PathogenicTransaldolase DeficiencyEyaid et al. 2013 Sibling of 606003.4.1
606003.5.1Saudi Arabia2PathogenicTransaldolase DeficiencyEyaid et al. 2013
606003.5.2Saudi Arabia2PathogenicTransaldolase DeficiencyEyaid et al. 2013 Sibling of 606003.5.1
606003.5.3Saudi Arabia2PathogenicTransaldolase DeficiencyEyaid et al. 2013 Sibling of 606003.5.1
606003.6.1Saudi Arabia2PathogenicTransaldolase DeficiencyEyaid et al. 2013
606003.6.2Saudi Arabia2PathogenicTransaldolase DeficiencyEyaid et al. 2013 Sibling of 606003.6.1
606003.6.3Saudi Arabia2PathogenicTransaldolase DeficiencyEyaid et al. 2013 Sibling of 606003.6.1
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