PKD1 c.464G>A ;(p.C155Y)

Variant ID: 16-2168742-C-T

NM_001009944.2(PKD1):c.464G>A;(p.C155Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.

Scientific Reports
Liu, Bei B; Chen, Song-Chang SC; Yang, Yan-Mei YM; Yan, Kai K; Qian, Ye-Qing YQ; Zhang, Jun-Yu JY; Hu, Yu-Ting YT; Dong, Min-Yue MY; Jin, Fan F; Huang, He-Feng HF; Xu, Chen-Ming CM
Publication Date: 2015-12-03

Variant appearance in text: PKD1: C155Y
PubMed Link: 26632257
Variant Present in the following documents:
  • Main text
  • srep17468.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: 464G>A; Cys155Tyr
PubMed Link: 25646624
Variant Present in the following documents:
  • pone.0116680.s016.pdf
View BVdb publication page