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.




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