PAH c.1016C>T ;(p.S339F)

Variant ID: 12-103238163-G-A

NM_000277.1(PAH):c.1016C>T;(p.S339F)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.

Bmc Medical Genetics
Liu, Ning N; Huang, Qiuying Q; Li, Qingge Q; Zhao, Dehua D; Li, Xiaole X; Cui, Lixia L; Bai, Ying Y; Feng, Yin Y; Kong, Xiangdong X
Publication Date: 2018-01-09

Variant appearance in text: PAH: 1016C>T; Ser339Phe
PubMed Link: 29316886
Variant Present in the following documents:
  • 12881_2017_Article_516.pdf
View BVdb publication page


Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.

Bmc Medical Genetics
Liu, Ning N; Huang, Qiuying Q; Li, Qingge Q; Zhao, Dehua D; Li, Xiaole X; Cui, Lixia L; Bai, Ying Y; Feng, Yin Y; Kong, Xiangdong X
Publication Date: 2017-10-05

Variant appearance in text: PAH: Ser339Phe
PubMed Link: 28982351
Variant Present in the following documents:
  • Main text
  • 12881_2017_Article_467.pdf
View BVdb publication page