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PKD1 c.5600A>G ;(p.N1867S)
Variant ID: 16-2159568-T-C
NM_001009944.2(
PKD1
):c.5600A>G;(p.N1867S)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.
Journal Of Nephrology
Vaisitti, Tiziana T; Sorbini, Monica M; Callegari, Martina M; Kalantari, Silvia S; Bracciamà , Valeria V; Arruga, Francesca F; Vanzino, Silvia Bruna SB; Rendine, Sabina S; Togliatto, Gabriele G; Giachino, Daniela D; Pelle, Alessandra A; Cocchi, Enrico E; Benvenuta, Chiara C; Baldovino, Simone S; Rollino, Cristiana C; Fenoglio, Roberta R; Sciascia, Savino S; Tamagnone, Michela M; Vitale, Corrado C; Calabrese, Giovanni G; Biancone, Luigi L; Bussolino, Stefania S; Savoldi, Silvana S; Borzumati, Maurizio M; Cantaluppi, Vincenzo V; Chiappero, Fabio F; Ungari, Silvana S; Peruzzi, Licia L; Roccatello, Dario D; Amoroso, Antonio A; Deaglio, Silvia S
Publication Date: 2021-10
Variant appearance in text: PKD1: 5600A>G; Asn1867Ser
PubMed Link:
33226606
Variant Present in the following documents:
40620_2020_Article_898.pdf
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: 5600A>G; Asn1867Ser
PubMed Link:
30333007
Variant Present in the following documents:
Main text
12881_2018_Article_693.pdf
View BVdb publication page