NM_000277.3:c.727C>T

  1. Home
  2. NM_000277.3:c.727C>T

HGVS Expressions

  • NG_008690.2:g.110481C>T
  • NM_000277.3:c.727C>T
  • NP_000268.1:p.Arg243Ter
  • NC_000012.12:g.102852930G>A

Associated Genes

Phenylalanine Hydroxylase
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

5030846

Clinvar

588

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.32Palestine1Likely PathogenicPhenylketonuriaBen-Rebeh et al. 2012
261600.44United Arab Emirates2PathogenicPhenylketonuriaAl-Jasmi at al. 2016 Mutation identified through newborn scre...
Download Table

Contributors

  • Sayeeda Hana: 24.05.2021

Edit History

  • Asha Deepthi: 08.06.2021
  • Sayeeda Hana: 24.05.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.