PKD1 c.6927C>T ;(p.G2309=)

Variant ID: 16-2158022-G-A

NM_001009944.2(PKD1):c.6927C>T;(p.G2309=)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13

Variant appearance in text: rs189277711
PubMed Link: 30545397
Variant Present in the following documents:
  • 13045_2018_679_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: 6927C>T; Gly2309=; rs189277711
PubMed Link: 27499327
Variant Present in the following documents:
  • srep30850-s2.xlsx, sheet 1
View BVdb publication page



Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.

The Journal Of Molecular Diagnostics : Jmd
Tan, Adrian Y AY; Michaeel, Alber A; Liu, Genyan G; Elemento, Olivier O; Blumenfeld, Jon J; Donahue, Stephanie S; Parker, Tom T; Levine, Daniel D; Rennert, Hanna H
Publication Date: 2014-03

Variant appearance in text: PKD1: 6927C>T
PubMed Link: 24374109
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: 6927C>T; Gly2309Gly
PubMed Link: 22008521
Variant Present in the following documents:
  • Main text
  • 1471-2369-12-57.pdf
View BVdb publication page