NM_000277.3:c.782G>A

  1. Home
  2. NM_000277.3:c.782G>A

HGVS Expressions

  • NG_008690.2:g.110536G>A
  • NM_000277.3:c.782G>A
  • NP_000268.1:p.Arg261Gln
  • NC_000012.12:g.102852875C>T

Associated Genes

Phenylalanine Hydroxylase
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

5030849

Clinvar

582

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.4Lebanon2PathogenicPhenylketonuriaKaram et al. 2013 Diagnosed through NBS
261600.8Lebanon1PathogenicPhenylketonuriaKaram et al. 2013 Has an affected paternal uncle
261600.36Egypt2PathogenicPhenylketonuriaAl-Jasmi at al. 2016 UAE resident of Egyptian origin
261600.G.5United Arab EmiratesPathogenicPhenylketonuriaAl-Shamsi et al. 2014; Ali et al. 2011 Emirati patient(s) with PKU. Number of p...
Download Table

Contributors

  • Pratibha Nair: 04.06.2020

Edit History

  • Asha Deepthi: 08.06.2021
  • Pratibha Nair: 14.06.2020
  • Pratibha Nair: 04.06.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.