NM_000157.4:c.1504C>T

  1. Home
  2. NM_000157.4:c.1504C>T

HGVS Expressions

  • NG_009783.1:g.14502C>T
  • NM_000157.4:c.1504C>T
  • NP_000148.2:p.Arg502Cys

Associated Genes

Glucosidase, Beta, Acid
Back to search Result
Genomic Location

chr1:155235196

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

80356771

Clinvar

4295

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231000.1Lebanon2PathogenicGaucher Disease, Type IIIJalkh et al. 2019
Download Table

Contributors

  • Pratibha Nair: 24.11.2020

Edit History

  • Pratibha Nair: 24.11.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.