Bibliome.ai browser hg19
Search
About
Stats
FAQ
PAH c.659A>C ;(p.H220P)
Variant ID: 12-103248961-T-G
NM_000277.1(
PAH
):c.659A>C;(p.H220P)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China.
Scientific Reports
Li, Nana N; He, Chunhua C; Li, Jing J; Tao, Jing J; Liu, Zhen Z; Zhang, Chunyan C; Yuan, Yuan Y; Jiang, Hui H; Zhu, Jun J; Deng, Ying Y; Guo, Yixiong Y; Li, Qintong Q; Yu, Ping P; Wang, Yanping Y
Publication Date: 2018-07-26
Variant appearance in text: PAH: H220P
PubMed Link:
30050108
Variant Present in the following documents:
Main text
41598_2018_Article_29640.pdf
View BVdb publication page
Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.
Scientific Reports
Li, Nana N; Jia, Haitao H; Liu, Zhen Z; Tao, Jing J; Chen, Song S; Li, Xiaohong X; Deng, Ying Y; Jin, Xi X; Song, Jiaping J; Zhang, Liangtao L; Liang, Yu Y; Wang, Wei W; Zhu, Jun J
Publication Date: 2015-10-27
Variant appearance in text: PAH: H220P
PubMed Link:
26503515
Variant Present in the following documents:
Main text
View BVdb publication page
Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.
Pediatric Research
Tao, Jing J; Li, Nana N; Jia, Haitao H; Liu, Zhen Z; Li, Xiaohong X; Song, Jiaping J; Deng, Ying Y; Jin, Xi X; Zhu, Jun J
Publication Date: 2015-12
Variant appearance in text: PAH: 659A>C; H220P
PubMed Link:
26322415
Variant Present in the following documents:
pr2015167a.pdf
View BVdb publication page