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PKD1 c.6656C>T ;(p.P2219L)
Variant ID: 16-2158512-G-A
NM_001009944.2(
PKD1
):c.6656C>T;(p.P2219L)
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:
A prognostic risk model for glioma patients by systematic evaluation of genomic variations.
Iscience
Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX
Publication Date: 2022-12-22
Variant appearance in text: PKD1: P2219L
PubMed Link:
36536675
Variant Present in the following documents:
mmc3.xls, sheet 1
View BVdb publication page
Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease.
Kidney International Reports
VanNoy, Grace E GE; Wojcik, Monica H MH; Genetti, Casie A CA; Mullen, Thomas E TE; Agrawal, Pankaj B PB; Stein, Deborah R DR
Publication Date: 2020-08
Variant appearance in text: PKD1: 6656C>T; Pro2219Leu
PubMed Link:
32775833
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page