NM_004273.4:c.533dup

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HGVS Expressions

  • NG_012635.1:g.48203dup
  • NM_004273.4:c.533dup
  • NP_004264.2:p.Ala179ArgfsTer141
  • NC_000010.11:g.72007564dup

Associated Genes

Carbohydrate Sulfotransferase 3
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

769540174

Clinvar

432012

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143095.3.06Lebanon2PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsUnger et al. 2010
143095.3.07Lebanon2PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsUnger et al. 2010
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Contributors

  • Sayeeda Hana: 24.09.2019

Edit History

  • Sami Bizzari: 30.05.2021
  • Sayeeda Hana: 30.09.2019
  • Sayeeda Hana: 27.09.2019
  • Sayeeda Hana: 24.09.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.