PKD1 c.8548T>C ;(p.S2850P)

Variant ID: 16-2153510-A-G

NM_001009944.2(PKD1):c.8548T>C;(p.S2850P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Disease causing property analyzation of variants in 12 Chinese families with polycystic kidney disease.

Molecular Genetics & Genomic Medicine
Dong, Kexian K; Liu, Xiaogang X; Jia, Xueyuan X; Miao, Huanhuan H; Ji, Wei W; Wu, Jie J; Huang, Yun Y; Xu, Lidan L; Zhang, Xuelong X; Su, Hui H; Ji, Guohua G; Liu, Peng P; Guan, Rongwei R; Bai, Jing J; Fu, Songbin S; Zhou, Xianli X; Sun, Wenjing W
Publication Date: 2020-11

Variant appearance in text: PKD1: 8548T>C; S2850P
PubMed Link: 32970388
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1467.pdf
View BVdb publication page



Identification of Biomarkers for PKD1 Using Urinary Exosomes.

Journal Of The American Society Of Nephrology : Jasn
Hogan, Marie C MC; Bakeberg, Jason L JL; Gainullin, Vladimir G VG; Irazabal, Maria V MV; Harmon, Amber J AJ; Lieske, John C JC; Charlesworth, M Cristine MC; Johnson, Kenneth L KL; Madden, Benjamin J BJ; Zenka, Roman M RM; McCormick, Daniel J DJ; Sundsbak, Jamie L JL; Heyer, Christina M CM; Torres, Vicente E VE; Harris, Peter C PC; Ward, Christopher J CJ
Publication Date: 2015-07

Variant appearance in text: PKD1: S2850P
PubMed Link: 25475747
Variant Present in the following documents:
  • Main text
View BVdb publication page