NM_000203.5:c.192C>A

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HGVS Expressions

  • NG_008103.1:g.5846C>A
  • NM_000203.5:c.192C>A
  • NP_000194.2:p.Tyr64Ter

Associated Genes

Alpha-L-Iduronidase
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Genomic Location

chr4:987842

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121965022

Clinvar

11914

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607015.1Palestine2PathogenicHurler-Scheie SyndromeAl-Jasmi et al. 2013 Severe MPS Type I with CNS involvement
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Contributors

  • Pratibha Nair: 09.08.2020

Edit History

  • Pratibha Nair: 09.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.