NM_000046.5:c.979C>T

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  2. NM_000046.5:c.979C>T

HGVS Expressions

  • NG_007089.1:g.105788C>T
  • NM_000046.5:c.979C>T
  • NP_000037.2:p.Arg327Ter
  • NC_000005.10:g.78885747G>A

Associated Genes

Arylsulfatase B
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

773492223

Clinvar

559832

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
253200.G.1United Arab Emirates4PathogenicMucopolysaccharidosis Type VIAl-Jasmi et al. 2013 2 Emirati siblings
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Contributors

  • Sayeeda Hana: 25.09.2021

Edit History

  • Sayeeda Hana: 26.09.2021
  • Sayeeda Hana: 25.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.