PKD1 c.10084C>T ;(p.Q3362*)

Variant ID: 16-2147952-G-A

NM_001009944.2(PKD1):c.10084C>T;(p.Q3362*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: PKD1: 10084C>T; Gln3362Ter
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



Identification of Biomarkers for PKD1 Using Urinary Exosomes.

Journal Of The American Society Of Nephrology : Jasn
Hogan, Marie C MC; Bakeberg, Jason L JL; Gainullin, Vladimir G VG; Irazabal, Maria V MV; Harmon, Amber J AJ; Lieske, John C JC; Charlesworth, M Cristine MC; Johnson, Kenneth L KL; Madden, Benjamin J BJ; Zenka, Roman M RM; McCormick, Daniel J DJ; Sundsbak, Jamie L JL; Heyer, Christina M CM; Torres, Vicente E VE; Harris, Peter C PC; Ward, Christopher J CJ
Publication Date: 2015-07

Variant appearance in text: PKD1: Q3362X
PubMed Link: 25475747
Variant Present in the following documents:
  • Main text
View BVdb publication page