NM_012200.4:c.416=

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HGVS Expressions

  • NG_031863.1:g.9987=
  • NM_012200.4:c.416=
  • NP_036332.2:p.Thr139=
  • NC_000011.10:g.62617189=

Associated Genes

Beta-1,3-Glucuronyltransferase 3
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Reference Allele

dbSNP

1327941900

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
245600.3Tunisia2Likely PathogenicMultiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart DefectsRanza et al. 2017
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Contributors

  • Pratibha Nair: 05.07.2022

Edit History

  • Pratibha Nair: 05.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.