PKD1 c.10960C>G ;(p.L3654V)

Variant ID: 16-2143601-G-C

NM_001009944.2(PKD1):c.10960C>G;(p.L3654V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Prediction of Renal Prognosis in Patients with Autosomal Dominant Polycystic Kidney Disease Using PKD1/PKD2 Mutations.

Journal Of Clinical Medicine
Kataoka, Hiroshi H; Fukuoka, Hinata H; Makabe, Shiho S; Yoshida, Rie R; Teraoka, Atsuko A; Ushio, Yusuke Y; Akihisa, Taro T; Manabe, Shun S; Sato, Masayo M; Mitobe, Michihiro M; Tsuchiya, Ken K; Nitta, Kosaku K; Mochizuki, Toshio T
Publication Date: 2020-01-05

Variant appearance in text: PKD1: 10960C>G; Leu3654Val
PubMed Link: 31948117
Variant Present in the following documents:
  • jcm-09-00146-s001.pdf
View BVdb publication page



Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

Journal Of The American Society Of Nephrology : Jasn
Rossetti, Sandro S; Hopp, Katharina K; Sikkink, Robert A RA; Sundsbak, Jamie L JL; Lee, Yean Kit YK; Kubly, Vickie V; Eckloff, Bruce W BW; Ward, Christopher J CJ; Winearls, Christopher G CG; Torres, Vicente E VE; Harris, Peter C PC
Publication Date: 2012-05

Variant appearance in text: PKD1: 10960C>G; Leu3654Val
PubMed Link: 22383692
Variant Present in the following documents:
  • Main text
View BVdb publication page