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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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