PKD1 c.3955G>A ;(p.G1319R)

Variant ID: 16-2161213-C-T

NM_001009944.2(PKD1):c.3955G>A;(p.G1319R)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Polygenic risk affects the penetrance of monogenic kidney disease.

Medrxiv : The Preprint Server For Health Sciences
Khan, Atlas A; Shang, Ning N; Nestor, Jordan G JG; Weng, Chunhua C; Hripcsak, George G; Harris, Peter C PC; Gharavi, Ali G AG; Kiryluk, Krzysztof K
Publication Date: 2023-05-10

Variant appearance in text: PKD1: G1319R
PubMed Link: 37214819
Variant Present in the following documents:
  • media-1.xlsx, sheet 3
  • media-1.xlsx, sheet 2
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: PKD1: 3955G>A; Gly1319Arg
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Estimating dispensable content in the human interactome.

Nature Communications
Ghadie, Mohamed M; Xia, Yu Y
Publication Date: 2019-07-19

Variant appearance in text: PKD1: 3955G>A; Gly1319Arg
PubMed Link: 31324802
Variant Present in the following documents:
  • 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4
  • 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
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: G1319R
PubMed Link: 27921038
Variant Present in the following documents:
  • Main text
View BVdb publication page



System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease.

Scientific Reports
Jin, Meiling M; Xie, Yuansheng Y; Chen, Zhiqiang Z; Liao, Yujie Y; Li, Zuoxiang Z; Hu, Panpan P; Qi, Yan Y; Yin, Zhiwei Z; Li, Qinggang Q; Fu, Ping P; Chen, Xiangmei X
Publication Date: 2016-10-26

Variant appearance in text: PKD1: 3955G>A; G1319R
PubMed Link: 27782177
Variant Present in the following documents:
  • srep35945-s1.pdf
View BVdb publication page



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: Gly1319Arg
PubMed Link: 26632257
Variant Present in the following documents:
  • Main text
  • srep17468.pdf
View BVdb publication page