NM_000203.5:c.613_617dup

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HGVS Expressions

  • NG_008103.1:g.19706_19710dup
  • NM_000203.5:c.613_617dup
  • NP_000194.2:p.Glu207AlafsTer29
  • NC_000004.12:g.1001702_1001706dup

Associated Genes

Alpha-L-Iduronidase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

786200915

Clinvar

11921

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607014.2Syria2NAPathogenicHurler SyndromeMaddirevula et al. 2018
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Contributors

  • Asha Deepthi: 22.12.2021

Edit History

  • Asha Deepthi: 22.12.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.