PKD1 c.2074G>A ;(p.A692T)

Variant ID: 16-2165402-C-T

NM_001009944.2(PKD1):c.2074G>A;(p.A692T)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers.

Nature Communications
Ferrari, Anthony A; Vincent-Salomon, Anne A; Pivot, Xavier X; Sertier, Anne-Sophie AS; Thomas, Emilie E; Tonon, Laurie L; Boyault, Sandrine S; Mulugeta, Eskeatnaf E; Treilleux, Isabelle I; MacGrogan, Gaëtan G; Arnould, Laurent L; Kielbassa, Janice J; Le Texier, Vincent V; Blanché, Hélène H; Deleuze, Jean-François JF; Jacquemier, Jocelyne J; Mathieu, Marie-Christine MC; Penault-Llorca, Frédérique F; Bibeau, Frédéric F; Mariani, Odette O; Mannina, Cécile C; Pierga, Jean-Yves JY; Trédan, Olivier O; Bachelot, Thomas T; Bonnefoi, Hervé H; Romieu, Gilles G; Fumoleau, Pierre P; Delaloge, Suzette S; Rios, Maria M; Ferrero, Jean-Marc JM; Tarpin, Carole C; Bouteille, Catherine C; Calvo, Fabien F; Gut, Ivo Glynne IG; Gut, Marta M; Martin, Sancha S; Nik-Zainal, Serena S; Stratton, Michael R MR; Pauporté, Iris I; Saintigny, Pierre P; Birnbaum, Daniel D; Viari, Alain A; Thomas, Gilles G
Publication Date: 2016-07-13

Variant appearance in text: PKD1: 2074G>A; Ala692Thr
PubMed Link: 27406316
Variant Present in the following documents:
  • ncomms12222-s3.xlsx, sheet 1
View BVdb publication page



Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia.

Nature Communications
Lilljebjörn, Henrik H; Henningsson, Rasmus R; Hyrenius-Wittsten, Axel A; Olsson, Linda L; Orsmark-Pietras, Christina C; von Palffy, Sofia S; Askmyr, Maria M; Rissler, Marianne M; Schrappe, Martin M; Cario, Gunnar G; Castor, Anders A; Pronk, Cornelis J H CJ; Behrendtz, Mikael M; Mitelman, Felix F; Johansson, Bertil B; Paulsson, Kajsa K; Andersson, Anna K AK; Fontes, Magnus M; Fioretos, Thoas T
Publication Date: 2016-06-06

Variant appearance in text: PKD1: A692T
PubMed Link: 27265895
Variant Present in the following documents:
  • ncomms11790-s8.xlsx, sheet 1
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: Ala692Thr
PubMed Link: 22008521
Variant Present in the following documents:
  • Main text
  • 1471-2369-12-57.pdf
View BVdb publication page