NM_004273.5:c.1_1440del

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HGVS Expressions

  • NG_012635.1:g.46482_49110del
  • NM_004273.5:c.1_1440del
  • NC_000010.11:g.72005843_72008471del

Associated Genes

Carbohydrate Sulfotransferase 3
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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
143095.5Morocco2Likely PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsRanza 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.