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PAH c.789C>G ;(p.F263L)
Variant ID: 12-103246646-G-C
NM_000277.1(
PAH
):c.789C>G;(p.F263L)
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:
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: 789C>G
PubMed Link:
35193651
Variant Present in the following documents:
13023_2022_2231_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Genetic variation in human drug-related genes.
Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22
Variant appearance in text: PAH: 789C>G; rs62642944
PubMed Link:
29273096
Variant Present in the following documents:
13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: PAH: F263L
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Genome Biology
,
Publication Date: 2015-06-26
Variant appearance in text: rs62642944
PubMed Link:
26112015
Variant Present in the following documents:
13059_2015_693_MOESM1_ESM.xls, sheet 1
View BVdb publication page