PKD1 c.2854-5C>T

Variant ID: 16-2163298-G-A

NM_001009944.2(PKD1):c.2854-5C>T

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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

Human Mutation
BorrĂ s, 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: rs114846412
PubMed Link: 28378423
Variant Present in the following documents:
  • HUMU-38-870-s001.pdf
View BVdb publication page



Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Scientific Reports
Carrera, Paola P; Calzavara, Silvia S; Magistroni, Riccardo R; den Dunnen, Johan T JT; Rigo, Francesca F; Stenirri, Stefania S; Testa, Francesca F; Messa, Piergiorgio P; Cerutti, Roberta R; Scolari, Francesco F; Izzi, Claudia C; Edefonti, Alberto A; Negrisolo, Susanna S; Benetti, Elisa E; Alibrandi, Maria Teresa Sciarrone MT; Manunta, Paolo P; Boletta, Alessandra A; Ferrari, Maurizio M
Publication Date: 2016-08-08

Variant appearance in text: rs114846412
PubMed Link: 27499327
Variant Present in the following documents:
  • srep30850-s2.xlsx, sheet 1
View BVdb publication page