NM_182760.4:c.706C>T

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HGVS Expressions

  • NG_016225.2:g.54254C>T
  • NM_182760.4:c.706C>T
  • NP_877437.2:p.Arg236Ter
  • NC_000003.12:g.4418029G>A

Associated Genes

Sulfatase-Modifying Factor 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

748169616

Clinvar

1323658

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
272200.1.1LebanonPathogenicMultiple 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: 10.11.2022
  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 08.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.