HR c.973G>C ;(p.G325R)

Variant ID: 8-21984982-C-G

NM_005144.4(HR):c.973G>C;(p.G325R)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Properties of neurons derived from induced pluripotent stem cells of Gaucher disease type 2 patient fibroblasts: potential role in neuropathology.

Plos One
Sun, Ying Y; Florer, Jane J; Mayhew, Christopher N CN; Jia, Zhanfeng Z; Zhao, Zhiying Z; Xu, Kui K; Ran, Huimin H; Liou, Benjamin B; Zhang, Wujuan W; Setchell, Kenneth D R KD; Gu, Jianguo J; Grabowski, Gregory A GA
Publication Date: 2015

Variant appearance in text: HR: G325R
PubMed Link: 25822147
Variant Present in the following documents:
  • Main text
View BVdb publication page