NM_000277.3:c.1055del

  1. Home
  2. NM_000277.3:c.1055del

HGVS Expressions

  • NG_008690.2:g.119065del
  • NM_000277.3:c.1055del
  • NP_000268.1:p.Gly352fs

Associated Genes

Phenylalanine Hydroxylase
Back to search Result
Genomic Location

chr12:102844347

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Deletion

dbSNP

62516094

Clinvar

102498

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.21KuwaitPathogenicPhenylketonuriaSamilchuk, 2005 Kuwaiti patient(s) with PKU. Number of p...
261600.35Morocco1Likely PathogenicPhenylketonuriaBen-Rebeh et al. 2012
Download Table

Contributors

  • Pratibha Nair: 14.06.2020

Edit History

  • Sayeeda Hana: 25.05.2021
  • Sayeeda Hana: 04.10.2020
  • Pratibha Nair: 14.06.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.