PAH c.1223G>T ;(p.R408L)

Variant ID: 12-103234270-C-A

NM_000277.1(PAH):c.1223G>T;(p.R408L)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report.

Iranian Journal Of Public Health
Razipour, Masoumeh M; Kooshavar, Daniz D; Alavinejad, Elaheh E; Sajedi, Seyede Zahra SZ; Mohajer, Neda N; Setoodeh, Aria A; Talebi, Saeed S; Keramatipour, Mohammad M
Publication Date: 2017-04

Variant appearance in text: PAH: 1223G>T; Arg408Leu
PubMed Link: 28540274
Variant Present in the following documents:
  • Main text
  • IJPH-46-560.pdf
View BVdb publication page