PKD1 c.1477C>T ;(p.Q493*)

Variant ID: 16-2166963-G-A

NM_001009944.2(PKD1):c.1477C>T;(p.Q493*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.

Frontiers In Genetics
Mantovani, Vilma V; Bin, Sofia S; Graziano, Claudio C; Capelli, Irene I; Minardi, Raffaella R; Aiello, Valeria V; Ambrosini, Enrico E; Cristalli, Carlotta Pia CP; Mattiaccio, Alessandro A; Pariali, Milena M; De Fanti, Sara S; Faletra, Flavio F; Grosso, Enrico E; Cantone, Rachele R; Mancini, Elena E; Mencarelli, Francesca F; Pasini, Andrea A; Wischmeijer, Anita A; Sciascia, Nicola N; Seri, Marco M; La Manna, Gaetano G
Publication Date: 2020

Variant appearance in text: PKD1: Q493*
PubMed Link: 32457805
Variant Present in the following documents:
  • Main text
  • fgene-11-00464.pdf
View BVdb publication page