NM_000181.4:c.1069C>T

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HGVS Expressions

  • NG_016197.1:g.12614C>T
  • NM_000181.4:c.1069C>T
  • NP_000172.2:p.Arg357Ter
  • NC_000007.14:g.65974701G>A

Associated Genes

Beta-Glucuronidase
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121918185

Clinvar

908

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
253220.2Saudi Arabia2NAPathogenicMucopolysaccharidosis Type VIIMaddirevula et al. 2018
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Contributors

  • Asha Deepthi: 16.12.2021

Edit History

  • Asha Deepthi: 16.12.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.