PKD1 c.6763C>T ;(p.R2255C)

Variant ID: 16-2158405-G-A

NM_001009944.2(PKD1):c.6763C>T;(p.R2255C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: PKD1: 6763C>T; Arg2255Cys; rs199803853
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
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: 6763C>T; Arg2255Cys
PubMed Link: 29038287
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.

Journal Of The American Society Of Nephrology : Jasn
Bergmann, Carsten C; von Bothmer, Jennifer J; Ortiz Brüchle, Nadina N; Venghaus, Andreas A; Frank, Valeska V; Fehrenbach, Henry H; Hampel, Tobias T; Pape, Lars L; Buske, Annegret A; Jonsson, Jon J; Sarioglu, Nanette N; Santos, Antónia A; Ferreira, Jose Carlos JC; Becker, Jan U JU; Cremer, Reinhold R; Hoefele, Julia J; Benz, Marcus R MR; Weber, Lutz T LT; Buettner, Reinhard R; Zerres, Klaus K
Publication Date: 2011-11

Variant appearance in text: PKD1: 6763C>T; R2255C
PubMed Link: 22034641
Variant Present in the following documents:
  • Main text
View BVdb publication page