NM_000277.3:c.671T>C

  1. Home
  2. NM_000277.3:c.671T>C

HGVS Expressions

  • NG_008690.2:g.108240T>C
  • NM_000277.3:c.671T>C
  • NP_000268.1:p.Ile224Thr

Associated Genes

Phenylalanine Hydroxylase
Back to search Result
Genomic Location

chr12:102855171

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

62507323

Clinvar

102777

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.22KuwaitPathogenicPhenylketonuriaSamilchuk, 2005 Kuwaiti patient(s) with PKU. Number of p...
Download Table

Contributors

  • Pratibha Nair: 14.06.2020

Edit History

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