PKD1 c.5878C>T ;(p.Q1960*)

Variant ID: 16-2159290-G-A

NM_001009944.2(PKD1):c.5878C>T;(p.Q1960*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Establishment and Characterization of MUi027-A: A Novel Patient-Derived Cell Line of Polycystic Kidney Disease with PKD1 Mutation.

Journal Of Personalized Medicine
Linn, Aung Khine AK; Maneepitasut, Warun W; Tubsuwan, Alisa A; Kitiyanant, Narisorn N; Phakdeekitcharoen, Bunyong B; Borwornpinyo, Suparerk S; Hongeng, Suradej S; Phanthong, Phetcharat P
Publication Date: 2022-05-09

Variant appearance in text: PKD1: 5878C>T
PubMed Link: 35629189
Variant Present in the following documents:
  • Main text
  • jpm-12-00766.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: 5878C>T; Gln1960X
PubMed Link: 22383692
Variant Present in the following documents:
  • Main text
View BVdb publication page