PKD1 c.8270C>G ;(p.S2757C)

Variant ID: 16-2153788-G-C

NM_001009944.2(PKD1):c.8270C>G;(p.S2757C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.

Frontiers In Genetics
Mantovani, Vilma V; Bin, Sofia S; Graziano, Claudio C; Capelli, Irene I; Minardi, Raffaella R; Aiello, Valeria V; Ambrosini, Enrico E; Cristalli, Carlotta Pia CP; Mattiaccio, Alessandro A; Pariali, Milena M; De Fanti, Sara S; Faletra, Flavio F; Grosso, Enrico E; Cantone, Rachele R; Mancini, Elena E; Mencarelli, Francesca F; Pasini, Andrea A; Wischmeijer, Anita A; Sciascia, Nicola N; Seri, Marco M; La Manna, Gaetano G
Publication Date: 2020

Variant appearance in text: PKD1: S2757C
PubMed Link: 32457805
Variant Present in the following documents:
  • Main text
  • fgene-11-00464.pdf
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: PKD1: S2757C
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page