NM_182760.4:c.1045C>T

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HGVS Expressions

  • NG_016225.2:g.110059C>T
  • NM_182760.4:c.1045C>T
  • NP_877437.2:p.Arg349Trp
  • NC_000003.12:g.4362224G>A

Associated Genes

Sulfatase-Modifying Factor 1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

137852846

Clinvar

2666

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
272200.1.1Lebanon1PathogenicMultiple Sulfatase DeficiencySabourdy et al, 2015 The patient had a late-infantile severe ...
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Contributors

  • Sayeeda Hana: 08.04.2020

Edit History

  • Pratibha Nair: 22.11.2022
  • Sayeeda Hana: 08.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.