PAH c.1006C>G ;(p.Q336E)

Variant ID: 12-103238173-G-C

NM_000277.1(PAH):c.1006C>G;(p.Q336E)

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:

Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.

Plos One
Gu, Ying Y; Lu, Kangmo K; Yang, Guanghui G; Cen, Zhong Z; Yu, Li L; Lin, Lin L; Hao, Jing J; Yang, Zhigang Z; Peng, Jiabao J; Cui, Shujian S; Huang, Jian J
Publication Date: 2014

Variant appearance in text: rs62516061
PubMed Link: 24705691
Variant Present in the following documents:
  • pone.0094100.s009.xlsx, sheet 1
View BVdb publication page