PKD1 c.6548C>T ;(p.T2183I)

Variant ID: 16-2158620-G-A

NM_001009944.2(PKD1):c.6548C>T;(p.T2183I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The prevalence of autosomal dominant polycystic kidney disease (ADPKD): A meta-analysis of European literature and prevalence evaluation in the Italian province of Modena suggest that ADPKD is a rare and underdiagnosed condition.

Plos One
Solazzo, Andrea A; Testa, Francesca F; Giovanella, Silvia S; Busutti, Marco M; Furci, Luciana L; Carrera, Paola P; Ferrari, Maurizio M; Ligabue, Giulia G; Mori, Giacomo G; Leonelli, Marco M; Cappelli, Gianni G; Magistroni, Riccardo R
Publication Date: 2018

Variant appearance in text: PKD1: Thr2183Ile
PubMed Link: 29338003
Variant Present in the following documents:
  • Main text
  • pone.0190430.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: PKD1: 6548C>T; Thr2183Ile
PubMed Link: 27499327
Variant Present in the following documents:
  • srep30850-s6.xls, sheet 1
View BVdb publication page