PKD1 c.4447C>T ;(p.Q1483*)

Variant ID: 16-2160721-G-A

NM_001009944.2(PKD1):c.4447C>T;(p.Q1483*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Exome-First Strategy in Adult Patients With CKD: A Cohort Study.

Kidney International Reports
Doreille, Alice A; Lombardi, Yannis Y; Dancer, Marine M; Lamri, Radoslava R; Testard, Quentin Q; Vanhoye, Xavier X; Lebre, Anne-Sophie AS; Garcia, Hugo H; Rafat, Cédric C; Ouali, Nacera N; Luque, Yosu Y; Izzedine, Hassan H; Esteve, Emmanuel E; Cez, Alexandre A; Petit-Hoang, Camille C; François, Hélène H; Marchal, Armance A; Letavernier, Emmanuel E; Frémeaux-Bacchi, Véronique V; Boffa, Jean-Jacques JJ; Rondeau, Eric E; Raymond, Laure L; Mesnard, Laurent L
Publication Date: 2023-03

Variant appearance in text: PKD1: 4447C>T
PubMed Link: 36938085
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Effect of tolvaptan on renal involvement in patients with autosomal dominant polycystic kidney disease according to different gene mutations.

Clinical And Experimental Nephrology
Moriyama, Tomofumi T; Nakayama, Yosuke Y; Soejima, Mikiko M; Yokota, Yunosuke Y; Ota, Kanji K; Ito, Sakuya S; Kodama, Goh G; Nakamura, Nao N; Kurokawa, Yuka Y; Yano, Junko J; Ueda, Utako U; Takamiya, Yoshimi Y; Kaida, Yusuke Y; Hazama, Takuma T; Shibata, Ryo R; Koda, Yoshiro Y; Fukami, Kei K
Publication Date: 2021-03

Variant appearance in text: PKD1: Q1483X
PubMed Link: 33141305
Variant Present in the following documents:
  • Main text
  • 10157_2020_Article_1988.pdf
View BVdb publication page



Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.

Scientific Reports
Kim, Hyunsuk H; Park, Hayne Cho HC; Ryu, Hyunjin H; Kim, Hyunho H; Lee, Hyun-Seob HS; Heo, Jongho J; Lee, Chung C; Kim, Nayoung K D NKD; Park, Woong-Yang WY; Hwang, Young-Hwan YH; Lee, Kyu Beck KB; Oh, Kook-Hwan KH; Oh, Yun Kyu YK; Ahn, Curie C
Publication Date: 2019-11-18

Variant appearance in text: PKD1: 4447C>T; Gln1483X
PubMed Link: 31740684
Variant Present in the following documents:
  • 41598_2019_52474_MOESM1_ESM.pdf
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: PKD1: 4447C>T; Gln1483Ter
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.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: 4447C>T; Gln1483*
PubMed Link: 30333007
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_693.pdf
View BVdb publication page