PKD1 c.12031C>T ;(p.Q4011*)

Variant ID: 16-2140782-G-A

NM_001009944.2(PKD1):c.12031C>T;(p.Q4011*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.

Molecular Genetics & Genomic Medicine
Trujillano, Daniel D; Bullich, Gemma G; Ossowski, Stephan S; Ballarín, José J; Torra, Roser R; Estivill, Xavier X; Ars, Elisabet E
Publication Date: 2014-09

Variant appearance in text: PKD1: 12031C>T; Gln4011*
PubMed Link: 25333066
Variant Present in the following documents:
  • Main text
  • mgg30002-0412.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: 12031C>T; Gln4011X
PubMed Link: 22383692
Variant Present in the following documents:
  • Main text
View BVdb publication page



New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics
Stekrova, Jitka J; Reiterova, Jana J; Svobodova, Stanislava S; Kebrdlova, Vera V; Lnenicka, Petr P; Merta, Miroslav M; Viklicky, Ondrej O; Kohoutova, Milada M
Publication Date: 2009-08-17

Variant appearance in text: PKD1: 12031C>T; Q4011X
PubMed Link: 19686598
Variant Present in the following documents:
  • Main text
  • 1471-2350-10-78.pdf
View BVdb publication page