PKD1 c.706C>T ;(p.Q236*)

Variant ID: 16-2168287-G-A

NM_001009944.2(PKD1):c.706C>T;(p.Q236*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.

Scientific Reports
Kim, Hyunsuk H; Park, Hayne Cho HC; Ryu, Hyunjin H; Kim, Hyunho H; Lee, Hyun-Seob HS; Heo, Jongho J; Lee, Chung C; Kim, Nayoung K D NKD; Park, Woong-Yang WY; Hwang, Young-Hwan YH; Lee, Kyu Beck KB; Oh, Kook-Hwan KH; Oh, Yun Kyu YK; Ahn, Curie C
Publication Date: 2019-11-18

Variant appearance in text: PKD1: 706C>T; Gln236X
PubMed Link: 31740684
Variant Present in the following documents:
  • 41598_2019_52474_MOESM1_ESM.pdf
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: Q236X
PubMed Link: 25475747
Variant Present in the following documents:
  • Main text
View BVdb publication page