NM_182760.4:c.691dup

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HGVS Expressions

  • NG_016225.2:g.54239dup
  • NM_182760.4:c.691dup
  • NP_877437.2:p.Trp231LeufsTer11
  • NC_000003.12:g.4418044dup

Associated Genes

Sulfatase-Modifying Factor 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

dbSNP

748337915

Clinvar

928845

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
272200.2United Arab Emirates1Likely PathogenicMultiple Sulfatase DeficiencyAl-Shamsi et al. 2016
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Contributors

  • Pratibha Nair: 15.07.2020

Edit History

  • Pratibha Nair: 03.01.2023
  • Pratibha Nair: 29.11.2022
  • Pratibha Nair: 23.08.2022
  • Sami Bizzari: 03.06.2022
  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 15.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.