SYNJ1 c.1370G>A ;(p.R457H)

Variant ID: 21-34051095-C-T

NM_203446.2(SYNJ1):c.1370G>A;(p.R457H)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


GBA, Gaucher Disease, and Parkinson's Disease: From Genetic to Clinic to New Therapeutic Approaches.

Cells
Riboldi, Giulietta M GM; Di Fonzo, Alessio B AB
Publication Date: 2019-04-19

Variant appearance in text: SYNJ1: R496H
PubMed Link: 31010158
Variant Present in the following documents:
  • Main text
  • cells-08-00364.pdf
View BVdb publication page



Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.

Movement Disorders : Official Journal Of The Movement Disorder Society
Schneider, Susanne A SA; Alcalay, Roy N RN
Publication Date: 2017-11

Variant appearance in text: SYNJ1: R496H
PubMed Link: 29124790
Variant Present in the following documents:
  • Main text
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: SYNJ1: R496H
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page