PKD1 c.5035A>C ;(p.S1679R)

Variant ID: 16-2160133-T-G

NM_001009944.2(PKD1):c.5035A>C;(p.S1679R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism.

Ebiomedicine
Lam, Wai-Yee WY; Tang, Clara Sze-Man CS; So, Man-Ting MT; Yue, Haibing H; Hsu, Jacob Shujui JS; Chung, Patrick Ho-Yu PH; Nicholls, John M JM; Yeung, Fanny F; Lee, Chun-Wai Davy CD; Ngo, Diem Ngoc DN; Nguyen, Pham Anh Hoa PAH; Mitchison, Hannah M HM; Jenkins, Dagan D; O'Callaghan, Christopher C; Garcia-Barceló, Maria-Mercè MM; Lee, So-Lun SL; Sham, Pak-Chung PC; Lui, Vincent Chi-Hang VC; Tam, Paul Kwong-Hang PK
Publication Date: 2021-09

Variant appearance in text: PKD1: S1679R
PubMed Link: 34455394
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



YAP1 amplification as a prognostic factor of definitive chemoradiotherapy in nonsurgical esophageal squamous cell carcinoma.

Cancer Medicine
Dai, Honghai H; Shao, Yang W YW; Tong, Xiaoling X; Wu, Xue X; Pang, Jiaohui J; Feng, Alei A; Yang, Zhe Z
Publication Date: 2020-03

Variant appearance in text: PKD1: S1679R
PubMed Link: 31851786
Variant Present in the following documents:
  • CAM4-9-1628-s002.xlsx, sheet 1
View BVdb publication page