NM_130468.4:c.54_78del

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HGVS Expressions

  • NG_017074.1:g.5307_5331del
  • NM_130468.4:c.54_78del
  • NP_569735.1:p.Gly19TrpfsTer19
  • NC_000015.10:g.40471267_40471291del

Associated Genes

Carbohydrate Sulfotransferase 14
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601776.1.1Saudi Arabia2NAPathogenicEhlers-Danlos Syndrome, Musculocontractural Type, 1Maddirevula et al. 2018
601776.1.2Saudi Arabia2NAPathogenicEhlers-Danlos Syndrome, Musculocontractural Type, 1Maddirevula et al. 2018 Relative of 601776.1.1
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Contributors

  • Asha Deepthi: 01.11.2021

Edit History

  • Rahila Mir: 14.02.2022
  • Asha Deepthi: 01.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.