PKD1 c.5637C>G ;(p.Y1879*)

Variant ID: 16-2159531-G-C

NM_001009944.2(PKD1):c.5637C>G;(p.Y1879*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.

Bmc Medical Genetics
He, Wen-Bin WB; Xiao, Wen-Juan WJ; Tan, Yue-Qiu YQ; Zhao, Xiao-Meng XM; Li, Wen W; Zhang, Qian-Jun QJ; Zhong, Chang-Gao CG; Li, Xiu-Rong XR; Hu, Liang L; Lu, Guang-Xiu GX; Lin, Ge G; Du, Juan J
Publication Date: 2018-10-17

Variant appearance in text: PKD1: 5637C>G; Tyr1879*
PubMed Link: 30333007
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_693.pdf
View BVdb publication page



An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.

Plos One
Eisenberger, Tobias T; Decker, Christian C; Hiersche, Milan M; Hamann, Ruben C RC; Decker, Eva E; Neuber, Steffen S; Frank, Valeska V; Bolz, Hanno J HJ; Fehrenbach, Henry H; Pape, Lars L; Toenshoff, Burkhard B; Mache, Christoph C; Latta, Kay K; Bergmann, Carsten C
Publication Date: 2015

Variant appearance in text: PKD1: 5637C>G; Tyr1879*
PubMed Link: 25646624
Variant Present in the following documents:
  • pone.0116680.s017.pdf
View BVdb publication page