CP c.1950A>C ;(p.G650=)

Variant ID: 3-148904434-T-G

NM_000096.3(CP):c.1950A>C;(p.G650=)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: CP: G650G; rs1053709
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: CP: G650G; rs1053709
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One
PatiƱo, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014

Variant appearance in text: CP: G650G
PubMed Link: 25333361
Variant Present in the following documents:
  • pone.0109576.s001.xls, sheet 3
  • pone.0109576.s003.xls, sheet 3
View BVdb publication page



Analysis of nucleotide variations in genes of iron management in patients of Parkinson's disease and other movement disorders.

Parkinson'S Disease
Castiglioni, Emanuela E; Finazzi, Dario D; Goldwurm, Stefano S; Pezzoli, Gianni G; Forni, Gianluca G; Girelli, Domenico D; Maccarinelli, Federica F; Poli, Maura M; Ferrari, Maurizio M; Cremonesi, Laura L; Arosio, Paolo P
Publication Date: 2010-10-17

Variant appearance in text: CP: G650G; rs1053709
PubMed Link: 20981230
Variant Present in the following documents:
  • Main text
  • PD2011-827693.pdf
View BVdb publication page



A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.

Bmc Genetics
Harris, Sarah E SE; Fox, Helen H; Wright, Alan F AF; Hayward, Caroline C; Starr, John M JM; Whalley, Lawrence J LJ; Deary, Ian J IJ
Publication Date: 2007-07-02

Variant appearance in text: rs1053709
PubMed Link: 17601350
Variant Present in the following documents:
  • Main text
  • 1471-2156-8-43.pdf
View BVdb publication page