NM_000203.5:c.1868T>C

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HGVS Expressions

  • NG_008103.1:g.22303T>C
  • NM_000203.5:c.1868T>C
  • NP_000194.2:p.Leu623Pro
  • NC_000004.12:g.1004299T>C

Associated Genes

Alpha-L-Iduronidase
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

1339514

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

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 08.02.2022
  • Asha Deepthi: 22.12.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.