PKD1 c.5923C>T ;(p.Q1975*)

Variant ID: 16-2159245-G-A

NM_001009944.2(PKD1):c.5923C>T;(p.Q1975*)

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: 5923C>T; Q1975*
PubMed Link: 36938073
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



High Resolution Melt analysis for mutation screening in PKD1 and PKD2.

Bmc Nephrology
Bataille, Stanislas S; Berland, Yvon Y; Fontes, Michel M; Burtey, Stéphane S
Publication Date: 2011-10-18

Variant appearance in text: PKD1: 5923C>T; Gln1975X
PubMed Link: 22008521
Variant Present in the following documents:
  • Main text
  • 1471-2369-12-57.pdf
View BVdb publication page