PKD1 c.6878C>T ;(p.P2293L)

Variant ID: 16-2158290-G-A

NM_001009944.2(PKD1):c.6878C>T;(p.P2293L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Recessive PKD1 Mutations Are Associated With Febrile Seizures and Epilepsy With Antecedent Febrile Seizures and the Genotype-Phenotype Correlation.

Frontiers In Molecular Neuroscience
Wang, Jing-Yang JY; Wang, Jie J; Lu, Xin-Guo XG; Song, Wang W; Luo, Sheng S; Zou, Dong-Fang DF; Hua, Li-Dong LD; Peng, Qian Q; Tian, Yang Y; Gao, Liang-Di LD; Liao, Wei-Ping WP; He, Na N
Publication Date: 2022

Variant appearance in text: PKD1: 6878C>T; P2293L
PubMed Link: 35620448
Variant Present in the following documents:
  • Main text
  • fnmol-15-861159.pdf
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: 6878C>T; Pro2293Leu; rs530832015
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.

Bmc Medical Genetics
He, Wen-Bin WB; Xiao, Wen-Juan WJ; Tan, Yue-Qiu YQ; Zhao, Xiao-Meng XM; Li, Wen W; Zhang, Qian-Jun QJ; Zhong, Chang-Gao CG; Li, Xiu-Rong XR; Hu, Liang L; Lu, Guang-Xiu GX; Lin, Ge G; Du, Juan J
Publication Date: 2018-10-17

Variant appearance in text: PKD1: 6878C>T; Pro2293Leu
PubMed Link: 30333007
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_693.pdf
View BVdb publication page



Genomic characterization of a large panel of patient-derived hepatocellular carcinoma xenograft tumor models for preclinical development.

Oncotarget
Gu, Qingyang Q; Zhang, Bin B; Sun, Hongye H; Xu, Qiang Q; Tan, Yexiong Y; Wang, Guan G; Luo, Qin Q; Xu, Weiguo W; Yang, Shuqun S; Li, Jian J; Fu, Jing J; Chen, Lei L; Yuan, Shengxian S; Liang, Guibai G; Ji, Qunsheng Q; Chen, Shu-Hui SH; Chan, Chi-Chung CC; Zhou, Weiping W; Xu, Xiaowei X; Wang, Hongyang H; Fang, Douglas D DD
Publication Date: 2015-08-21

Variant appearance in text: PKD1: P2293L
PubMed Link: 26062443
Variant Present in the following documents:
  • oncotarget-06-20160-s004.xlsx, sheet 1
View BVdb publication page



Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.

Journal Of The American Society Of Nephrology : Jasn
Bergmann, Carsten C; von Bothmer, Jennifer J; Ortiz Brüchle, Nadina N; Venghaus, Andreas A; Frank, Valeska V; Fehrenbach, Henry H; Hampel, Tobias T; Pape, Lars L; Buske, Annegret A; Jonsson, Jon J; Sarioglu, Nanette N; Santos, Antónia A; Ferreira, Jose Carlos JC; Becker, Jan U JU; Cremer, Reinhold R; Hoefele, Julia J; Benz, Marcus R MR; Weber, Lutz T LT; Buettner, Reinhard R; Zerres, Klaus K
Publication Date: 2011-11

Variant appearance in text: PKD1: 6878C>T; P2293L
PubMed Link: 22034641
Variant Present in the following documents:
  • Main text
View BVdb publication page