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PKD1 c.11343C>A ;(p.Y3781*)
Variant ID: 16-2142116-G-T
NM_001009944.2(
PKD1
):c.11343C>A;(p.Y3781*)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: Y3781X
PubMed Link:
33141305
Variant Present in the following documents:
Main text
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: Y3781*
PubMed Link:
27921038
Variant Present in the following documents:
Main text
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: Tyr3781Ter
PubMed Link:
26632257
Variant Present in the following documents:
Main text
srep17468.pdf
View BVdb publication page
Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.
Plos One
Liu, Yanqiu Y; Wei, Xiaoming X; Kong, Xiangdong X; Guo, Xueqin X; Sun, Yan Y; Man, Jianfen J; Du, Lique L; Zhu, Hui H; Qu, Zelan Z; Tian, Ping P; Mao, Bing B; Yang, Yun Y
Publication Date: 2015
Variant appearance in text: PKD1: 11343C>A; Y3781*
PubMed Link:
26274329
Variant Present in the following documents:
Main text
pone.0133636.pdf
View BVdb publication page