NM_000202.7:c.1418del

  1. Home
  2. NM_000202.7:c.1418del

HGVS Expressions

  • NG_011900.3:g.27354del
  • NM_000202.7:c.1418del
  • NP_000193.1:p.Pro473LeufsTer10
  • NC_000023.11:g.149482983del

Associated Genes

Iduronate 2-Sulfatase
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

2089305403

Clinvar

988763

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
309900.1Palestine4PathogenicMucopolysaccharidosis Type IIAl-Jasmi et al. 2013 2 patients suffering from severe disease...
Download Table

Contributors

  • Sayeeda Hana: 26.09.2021

Edit History

  • Sayeeda Hana: 26.09.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.