PAH c.886G>C ;(p.D296H)

Variant ID: 12-103245491-C-G

NM_000277.1(PAH):c.886G>C;(p.D296H)

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:

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: D296H
PubMed Link: 26503515
Variant Present in the following documents:
  • Main text
  • srep15769.pdf
View BVdb publication page