PKD1 c.7863+47T>G

Variant ID: 16-2155819-A-C

NM_001009944.2(PKD1):c.7863+47T>G

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

American Journal Of Human Genetics
Tachmazidou, Ioanna I; Süveges, Dániel D; Min, Josine L JL; Ritchie, Graham R S GRS; Steinberg, Julia J; Walter, Klaudia K; Iotchkova, Valentina V; Schwartzentruber, Jeremy J; Huang, Jie J; Memari, Yasin Y; McCarthy, Shane S; Crawford, Andrew A AA; Bombieri, Cristina C; Cocca, Massimiliano M; Farmaki, Aliki-Eleni AE; Gaunt, Tom R TR; Jousilahti, Pekka P; Kooijman, Marjolein N MN; Lehne, Benjamin B; Malerba, Giovanni G; Männistö, Satu S; Matchan, Angela A; Medina-Gomez, Carolina C; Metrustry, Sarah J SJ; Nag, Abhishek A; Ntalla, Ioanna I; Paternoster, Lavinia L; Rayner, Nigel W NW; Sala, Cinzia C; Scott, William R WR; Shihab, Hashem A HA; Southam, Lorraine L; St Pourcain, Beate B; Traglia, Michela M; Trajanoska, Katerina K; Zaza, Gialuigi G; Zhang, Weihua W; Artigas, María S MS; Bansal, Narinder N; Benn, Marianne M; Chen, Zhongsheng Z; Danecek, Petr P; Lin, Wei-Yu WY; Locke, Adam A; Luan, Jian'an J; Manning, Alisa K AK; Mulas, Antonella A; Sidore, Carlo C; Tybjaerg-Hansen, Anne A; Varbo, Anette A; Zoledziewska, Magdalena M; Finan, Chris C; Hatzikotoulas, Konstantinos K; Hendricks, Audrey E AE; Kemp, John P JP; Moayyeri, Alireza A; Panoutsopoulou, Kalliope K; Szpak, Michal M; Wilson, Scott G SG; Boehnke, Michael M; Cucca, Francesco F; Di Angelantonio, Emanuele E; Langenberg, Claudia C; Lindgren, Cecilia C; McCarthy, Mark I MI; Morris, Andrew P AP; Nordestgaard, Børge G BG; Scott, Robert A RA; Tobin, Martin D MD; Wareham, Nicholas J NJ; , ; , ; Burton, Paul P; Chambers, John C JC; Smith, George Davey GD; Dedoussis, George G; Felix, Janine F JF; Franco, Oscar H OH; Gambaro, Giovanni G; Gasparini, Paolo P; Hammond, Christopher J CJ; Hofman, Albert A; Jaddoe, Vincent W V VWV; Kleber, Marcus M; Kooner, Jaspal S JS; Perola, Markus M; Relton, Caroline C; Ring, Susan M SM; Rivadeneira, Fernando F; Salomaa, Veikko V; Spector, Timothy D TD; Stegle, Oliver O; Toniolo, Daniela D; Uitterlinden, André G AG; , ; , ; , ; Barroso, Inês I; Greenwood, Celia M T CMT; Perry, John R B JRB; Walker, Brian R BR; Butterworth, Adam S AS; Xue, Yali Y; Durbin, Richard R; Small, Kerrin S KS; Soranzo, Nicole N; Timpson, Nicholas J NJ; Zeggini, Eleftheria E
Publication Date: 2017-06-01

Variant appearance in text: rs28610092
PubMed Link: 28552196
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc1.pdf
  • mmc27.pdf
View BVdb publication page



A novel long-range PCR sequencing method for genetic analysis of the entire PKD1 gene.

The Journal Of Molecular Diagnostics : Jmd
Tan, Ying-Cai YC; Michaeel, Alber A; Blumenfeld, Jon J; Donahue, Stephanie S; Parker, Tom T; Levine, Daniel D; Rennert, Hanna H
Publication Date: 2012-07

Variant appearance in text: rs28610092
PubMed Link: 22608885
Variant Present in the following documents:
  • Main text
View BVdb publication page



High Resolution Melt analysis for mutation screening in PKD1 and PKD2.

Bmc Nephrology
Bataille, Stanislas S; Berland, Yvon Y; Fontes, Michel M; Burtey, Stéphane S
Publication Date: 2011-10-18

Variant appearance in text: PKD1: 7863+47T>G
PubMed Link: 22008521
Variant Present in the following documents:
  • Main text
  • 1471-2369-12-57.pdf
View BVdb publication page