PKD1 c.7909C>T ;(p.Q2637*)

Variant ID: 16-2155430-G-A

NM_001009944.2(PKD1):c.7909C>T;(p.Q2637*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: 7909C>T; Gln2637X
PubMed Link: 22383692
Variant Present in the following documents:
  • Main text
View BVdb publication page



Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease.

Clinical Journal Of The American Society Of Nephrology : Cjasn
Irazabal, Maria V MV; Huston, John J; Kubly, Vickie V; Rossetti, Sandro S; Sundsbak, Jamie L JL; Hogan, Marie C MC; Harris, Peter C PC; Brown, Robert D RD; Torres, Vicente E VE
Publication Date: 2011-06

Variant appearance in text: PKD1: Q2637X
PubMed Link: 21551026
Variant Present in the following documents:
  • Main text
View BVdb publication page