PKD1 c.11614G>T ;(p.E3872*)

Variant ID: 16-2141522-C-A

NM_001009944.2(PKD1):c.11614G>T;(p.E3872*)

This variant was identified in 5 publications

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: E3872*
PubMed Link: 32457805
Variant Present in the following documents:
  • Main text
  • fgene-11-00464.pdf
View BVdb publication page



Expression and secretion of CXCL12 are enhanced in autosomal dominant polycystic kidney disease.

Bmb Reports
Kim, Hyunho H; Sung, Jinmo J; Kim, Hyunsuk H; Ryu, Hyunjin H; Cho Park, Hayne H; Oh, Yun Kyu YK; Lee, Hyun-Seob HS; Oh, Kook-Hwan KH; Ahn, Curie C
Publication Date: 2019-07

Variant appearance in text: PKD1: 11614G>T; E3872X
PubMed Link: 31186083
Variant Present in the following documents:
  • Main text
  • bmb-52-463.pdf
View BVdb publication page



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: 11614G>T; Glu3872*
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: 11614G>T; Glu3872*
PubMed Link: 26139440
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics
Choi, Rihwa R; Park, Hayne Cho HC; Lee, Kyunghoon K; Lee, Myoung-Gun MG; Kim, Jong-Won JW; Ki, Chang-Seok CS; Hwang, Young-Hwan YH; Ahn, Curie C
Publication Date: 2014-12-10

Variant appearance in text: PKD1: Glu3872*
PubMed Link: 25491204
Variant Present in the following documents:
  • Main text
  • 12881_2014_Article_129.pdf
View BVdb publication page