NM_000142.5:c.1172C>A

  1. Home
  2. NM_000142.5:c.1172C>A

HGVS Expressions

  • NG_012632.1:g.16115C>A
  • NM_000142.5:c.1172C>A
  • NP_000133.1:p.Ala391Glu
  • NC_000004.12:g.1804426C>A

Associated Genes

Fibroblast Growth Factor Receptor 3
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

28931615

Clinvar

16329

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612247.1Saudi Arabia1NAPathogenicCrouzon Syndrome with Acanthosis NigricansMaddirevula et al. 2018 Mutation is de novo. Patient's parents a...
Download Table

Contributors

  • Asha Deepthi: 24.11.2021

Edit History

  • Asha Deepthi: 24.11.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.