NM_002408.3:c.693del

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HGVS Expressions

  • NG_033054.1:g.3673del
  • NM_002408.3:c.693del
  • NP_002399.1:p.Lys231AsnfsTer15
  • NC_000014.9:g.49621961del

Associated Genes

Alpha-1,6-Mannosyl-Glycoprotein Beta-1,2-N-Acetylglucosaminyltransferase
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
212066.1.1Lebanon2Likely PathogenicCongenital Disorder Of Glycosylation, Type IIaBruneel et al. 2018
212066.1.2Lebanon1Likely PathogenicBruneel et al. 2018 Mother of 212066.1.1
212066.1.3Lebanon1Likely PathogenicBruneel et al. 2018 Father of 212066.1.1
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Contributors

  • Pratibha Nair: 12.07.2021

Edit History

  • Pratibha Nair: 14.09.2022
  • Pratibha Nair: 12.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.