PKD1 c.7863+1G>T

Variant ID: 16-2155865-C-A

NM_001009944.2(PKD1):c.7863+1G>T

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: 7863+1G>T
PubMed Link: 36938073
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease.

European Journal Of Human Genetics : Ejhg
Mallawaarachchi, Amali C AC; Hort, Yvonne Y; Cowley, Mark J MJ; McCabe, Mark J MJ; Minoche, André A; Dinger, Marcel E ME; Shine, John J; Furlong, Timothy J TJ
Publication Date: 2016-11

Variant appearance in text: PKD1: 7863+1G>T
PubMed Link: 27165007
Variant Present in the following documents:
  • Main text
View BVdb publication page