NM_000263.4:c.889C>T

  1. Home
  2. NM_000263.4:c.889C>T

HGVS Expressions

  • NG_011552.1:g.10142C>T
  • NM_000263.4:c.889C>T
  • NP_000254.2:p.Arg297Ter
  • NC_000017.11:g.42541074C>T

Associated Genes

N-Acetylglucosaminidase, Alpha-
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

104894592

Clinvar

1562

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
252920.G.2Saudi Arabia8NAPathogenicMucopolysaccharidosis Type IIIBMaddirevula et al. 2018 Four related patients
Download Table

Contributors

  • Asha Deepthi: 03.02.2022

Edit History

  • Asha Deepthi: 03.02.2022
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.