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PKD1 c.6062T>C ;(p.L2021P)
Variant ID: 16-2159106-A-G
NM_001009944.2(
PKD1
):c.6062T>C;(p.L2021P)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: Leu2021Pro
PubMed Link:
27499327
Variant Present in the following documents:
Main text
srep30850.pdf
View BVdb publication page
Molecular diagnostics in autosomal dominant polycystic kidney disease: utility and limitations.
Clinical Journal Of The American Society Of Nephrology : Cjasn
Zhao, Xiao X; Paterson, Andrew D AD; Zahirieh, Alireza A; He, Ning N; Wang, Kairong K; Pei, York Y
Publication Date: 2008-01
Variant appearance in text: PKD1: L2021P
PubMed Link:
18077784
Variant Present in the following documents:
Main text
View BVdb publication page