PAH c.1216A>G ;(p.I406V)

Variant ID: 12-103234277-T-C

NM_000277.1(PAH):c.1216A>G;(p.I406V)

This variant was identified in 4 publications

View GRCh38 version.



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

Publications:

Internally inlaid SaCas9 base editors enable window specific base editing.

Theranostics
Jiang, Lurong L; Long, Jie J; Yang, Yang Y; Zhou, Lifang L; Su, Jing J; Qin, Fengming F; Tang, Wenling W; Tao, Rui R; Chen, Qiang Q; Yao, Shaohua S
Publication Date: 2022

Variant appearance in text: PAH: I406V
PubMed Link: 35832085
Variant Present in the following documents:
  • thnov12p4767.pdf
View BVdb publication page


Integrated genomic analyses identify high-risk factors and actionable targets in T-cell acute lymphoblastic leukemia.

Blood Science (Baltimore, Md.)
Zhu, Haichuan H; Dong, Bingjie B; Zhang, Yingchi Y; Wang, Mei M; Rao, Jianan J; Cui, Bowen B; Liu, Yu Y; Jiang, Qian Q; Wang, Weitao W; Yang, Lu L; Yu, Anqi A; Li, Zongru Z; Liu, Chao C; Zhang, Leping L; Huang, Xiaojun X; Zhu, Xiaofan X; Wu, Hong H
Publication Date: 2022-01

Variant appearance in text: PAH: I406V
PubMed Link: 35399540
Variant Present in the following documents:
  • bls-4-16-s005.xlsx, sheet 2
View BVdb publication page


Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases
Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z
Publication Date: 2022-02-21

Variant appearance in text: PAH: 1216A>G
PubMed Link: 35193651
Variant Present in the following documents:
  • 13023_2022_Article_2231.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: I406V
PubMed Link: 26503515
Variant Present in the following documents:
  • Main text
  • srep15769.pdf
View BVdb publication page