PAH c.609C>G ;(p.C203W)

Variant ID: 12-103249011-G-C

NM_000277.1(PAH):c.609C>G;(p.C203W)

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:

Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?

Jimd Reports
Sarkissian, Christineh N CN; Gamez, Alejandra A; Scott, Patrick P; Dauvillier, Jerome J; Dorenbaum, Alejandro A; Scriver, Charles R CR; Stevens, Raymond C RC
Publication Date: 2012

Variant appearance in text: PAH: 609C>G; C203W
PubMed Link: 23430918
Variant Present in the following documents:
  • Main text
View BVdb publication page