NM_000203.5:c.878_889dup

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HGVS Expressions

  • NG_008103.1:g.20071_20082dup
  • NM_000203.5:c.878_889dup
  • NP_000194.2:p.Thr293_Tyr296dup
  • NC_000004.12:g.1002067_1002078dup

Associated Genes

Alpha-L-Iduronidase
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

dbSNP

779762183

Clinvar

550382

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607014.1Saudi Arabia1NALikely PathogenicHurler SyndromeMaddirevula et al. 2018 Patient's parents are from the same regi...
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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.