PAH c.843T>A ;(p.P281=)

Variant ID: 12-103245534-A-T

NM_000277.1(PAH):c.843T>A;(p.P281=)

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:

Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria.

Springerplus
Biglari, Alireza A; Saffari, Fatemeh F; Rashvand, Zahra Z; Alizadeh, Safarali S; Najafipour, Reza R; Sahmani, Mehdi M
Publication Date: 2015

Variant appearance in text: PAH: 843T>A; P281P
PubMed Link: 26413448
Variant Present in the following documents:
  • Main text
  • 40064_2015_Article_1309.pdf
View BVdb publication page