PRNP c.372C>G ;(p.G124=)

Variant ID: 20-4680238-C-G

NM_000311.3(PRNP):c.372C>G;(p.G124=)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Prion Mutations in Republic of Republic of Korea, China, and Japan.

International Journal Of Molecular Sciences
Kim, Dan Yeong DY; Shim, Kyu Hwan KH; Bagyinszky, Eva E; An, Seong Soo A SSA
Publication Date: 2022-12-30

Variant appearance in text: CJD: G124G
PubMed Link: 36614069
Variant Present in the following documents:
  • Main text
  • ijms-24-00625.pdf
View BVdb publication page



Analysis of the prion protein gene in multiple system atrophy.

Neurobiology Of Aging
Chelban, Viorica V; Manole, Andreea A; Pihlstrøm, Lasse L; Schottlaender, Lucia L; Efthymiou, Stephanie S; OConnor, Emer E; Meissner, Wassilios G WG; Holton, Janice L JL; Houlden, Henry H
Publication Date: 2017-01

Variant appearance in text: PRNP: 372C>G; rs201423990
PubMed Link: 27793473
Variant Present in the following documents:
  • Main text
  • main.pdf
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: PRNP: G124G
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Human prion diseases in the Netherlands (1998-2009): clinical, genetic and molecular aspects.

Plos One
Jansen, Casper C; Parchi, Piero P; Capellari, Sabina S; Ibrahim-Verbaas, Carla A CA; Schuur, Maaike M; Strammiello, Rosaria R; Corrado, Patrizia P; Bishop, Matthew T MT; van Gool, Willem A WA; Verbeek, Marcel M MM; Baas, Frank F; van Saane, Wesley W; Spliet, Wim G M WG; Jansen, Gerard H GH; van Duijn, Cornelia M CM; Rozemuller, Annemieke J M AJ
Publication Date: 2012

Variant appearance in text: CJD: G124G
PubMed Link: 22558438
Variant Present in the following documents:
  • Main text
  • pone.0036333.pdf
View BVdb publication page