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PKD1 c.1524C>A ;(p.C508*)
Variant ID: 16-2166916-G-T
NM_001009944.2(
PKD1
):c.1524C>A;(p.C508*)
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: 1524C>A; Cys508*
PubMed Link:
27499327
Variant Present in the following documents:
srep30850-s4.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: 1524C>A; Cys508*
PubMed Link:
27165007
Variant Present in the following documents:
Main text
View BVdb publication page