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PKD1 c.11512C>T ;(p.Q3838*)
Variant ID: 16-2141807-G-A
NM_001009944.2(
PKD1
):c.11512C>T;(p.Q3838*)
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:
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: 11512C>T; Gln3838*
PubMed Link:
30333007
Variant Present in the following documents:
Main text
12881_2018_Article_693.pdf
View BVdb publication page
Polycystic liver diseases: advanced insights into the molecular mechanisms.
Nature Reviews. Gastroenterology & Hepatology
Perugorria, Maria J MJ; Masyuk, Tatyana V TV; Marin, Jose J JJ; Marzioni, Marco M; Bujanda, Luis L; LaRusso, Nicholas F NF; Banales, Jesus M JM
Publication Date: 2014-12
Variant appearance in text: PKD1: 11512C>T; Gln3838Ter
PubMed Link:
25266109
Variant Present in the following documents:
Main text
View BVdb publication page
High Resolution Melt analysis for mutation screening in PKD1 and PKD2.
Bmc Nephrology
Bataille, Stanislas S; Berland, Yvon Y; Fontes, Michel M; Burtey, Stéphane S
Publication Date: 2011-10-18
Variant appearance in text: PKD1: 11512C>T; Gln3838X
PubMed Link:
22008521
Variant Present in the following documents:
Main text
1471-2369-12-57.pdf
View BVdb publication page