PAH c.1100T>G ;(p.L367R)

Variant ID: 12-103237523-A-C

NM_000277.1(PAH):c.1100T>G;(p.L367R)

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:

The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients.

Scientific Reports
Zhu, Tianwen T; Ye, Jun J; Han, Lianshu L; Qiu, Wenjuan W; Zhang, Huiwen H; Liang, Lili L; Gu, Xuefan X
Publication Date: 2017-07-28

Variant appearance in text: PAH: Leu367Arg
PubMed Link: 28754886
Variant Present in the following documents:
View BVdb publication page