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PKD1 c.11944C>T ;(p.Q3982*)
Variant ID: 16-2140944-G-A
NM_001009944.2(
PKD1
):c.11944C>T;(p.Q3982*)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan.
Npj Genomic Medicine
Yu, Chih-Chuan CC; Lee, An-Fu AF; Kohl, Stefen S; Lin, Ming-Yen MY; Cheng, Siao Muk SM; Hung, Chi-Chih CC; Chang, Jer-Ming JM; Chiu, Yi-Wen YW; Hwang, Shang-Jyh SJ; Otto, Edgar A EA; Hildebrandt, Friedhelm F; , ; Hwang, Daw-Yang DY
Publication Date: 2022-07-01
Variant appearance in text: PKD1: 11944C>T; Gln3982*
PubMed Link:
35778421
Variant Present in the following documents:
Main text
41525_2022_Article_309.pdf
View BVdb publication page
Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.
Molecular Genetics & Genomic Medicine
Wang, Tao T; Li, Qinggang Q; Shang, Shunlai S; Geng, Guangrui G; Xie, Yuansheng Y; Cai, Guangyan G; Chen, Xiangmei X
Publication Date: 2019-06
Variant appearance in text: PKD1: 11944C>T; Gln3982X
PubMed Link:
31056860
Variant Present in the following documents:
Main text
MGG3-7-e720.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: Gln3982Ter
PubMed Link:
26632257
Variant Present in the following documents:
Main text
srep17468.pdf
View BVdb publication page