PKD1 c.2269C>T ;(p.Q757*)

Variant ID: 16-2164755-G-A

NM_001009944.2(PKD1):c.2269C>T;(p.Q757*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.

Kidney International Reports
Lindemann, Christoph Heinrich CH; Wenzel, Andrea A; Erger, Florian F; Middelmann, Lea L; Borde, Julika J; Hahnen, Eric E; Krauß, Denise D; Oehm, Simon S; Arjune, Sita S; Todorova, Polina P; Burgmaier, Kathrin K; Liebau, Max Christoph MC; Grundmann, Franziska F; Beck, Bodo B BB; Müller, Roman-Ulrich RU
Publication Date: 2023-03

Variant appearance in text: PKD1: 2269C>T; Q757*
PubMed Link: 36938073
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.

Human Mutation
Borràs, Daniel M DM; Vossen, Rolf H A M RHAM; Liem, Michael M; Buermans, Henk P J HPJ; Dauwerse, Hans H; van Heusden, Dave D; Gansevoort, Ron T RT; den Dunnen, Johan T JT; Janssen, Bart B; Peters, Dorien J M DJM; Losekoot, Monique M; Anvar, Seyed Yahya SY
Publication Date: 2017-07

Variant appearance in text: rs775710328
PubMed Link: 28378423
Variant Present in the following documents:
  • Main text
  • HUMU-38-870-s001.pdf
  • HUMU-38-870.pdf
View BVdb publication page