PKD1 c.12366G>A ;(p.W4122*)

Variant ID: 16-2140364-C-T

NM_001009944.2(PKD1):c.12366G>A;(p.W4122*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Sperm morphological abnormalities in autosomal dominant polycystic kidney disease are associated with the Hippo signaling pathway via PC1.

Frontiers In Endocrinology
Shi, Wei-Hui WH; Zhou, Zhi-Yang ZY; Ye, Mu-Jin MJ; Qin, Ning-Xin NX; Jiang, Zi-Ru ZR; Zhou, Xuan-You XY; Xu, Nai-Xin NX; Cao, Xian-Lin XL; Chen, Song-Chang SC; Huang, He-Feng HF; Xu, Chen-Ming CM
Publication Date: 2023

Variant appearance in text: PKD1: 12366G>A; Trp4122Ter
PubMed Link: 37152951
Variant Present in the following documents:
  • Main text
  • fendo-14-1130536.pdf
View BVdb publication page



The Clinical Manifestation and Management of Autosomal Dominant Polycystic Kidney Disease in China.

Kidney Diseases (Basel, Switzerland)
Xue, Cheng C; Zhou, Chen-Chen CC; Wu, Ming M; Mei, Chang-Lin CL
Publication Date: 2016-10

Variant appearance in text: PKD1: W4122*
PubMed Link: 27921038
Variant Present in the following documents:
  • Main text
View BVdb publication page