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PKD1 c.10232G>A ;(p.W3411*)
Variant ID: 16-2147493-C-T
NM_001009944.2(
PKD1
):c.10232G>A;(p.W3411*)
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:
Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.
Journal Of The American Society Of Nephrology : Jasn
Cornec-Le Gall, Emilie E; Torres, Vicente E VE; Harris, Peter C PC
Publication Date: 2018-01
Variant appearance in text: PKD1: 10232G>A; Trp3411*
PubMed Link:
29038287
Variant Present in the following documents:
Main text
View BVdb publication page
Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.
Journal Of The American Society Of Nephrology : Jasn
Audrézet, Marie-Pierre MP; Corbiere, Christine C; Lebbah, Said S; Morinière, Vincent V; Broux, Françoise F; Louillet, Ferielle F; Fischbach, Michel M; Zaloszyc, Ariane A; Cloarec, Sylvie S; Merieau, Elodie E; Baudouin, Véronique V; Deschênes, Georges G; Roussey, Gwenaelle G; Maestri, Sandrine S; Visconti, Chiara C; Boyer, Olivia O; Abel, Carine C; Lahoche, Annie A; Randrianaivo, Hanitra H; Bessenay, Lucie L; Mekahli, Djalila D; Ouertani, Ines I; Decramer, Stéphane S; Ryckenwaert, Amélie A; Cornec-Le Gall, Emilie E; Salomon, Rémi R; Ferec, Claude C; Heidet, Laurence L
Publication Date: 2016-03
Variant appearance in text: PKD1: 10232G>A; Trp3411*
PubMed Link:
26139440
Variant Present in the following documents:
Main text
View BVdb publication page