PRNP c.656A>G ;(p.E219G)

Variant ID: 20-4680522-A-G

NM_000311.3(PRNP):c.656A>G;(p.E219G)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The Future of Seed Amplification Assays and Clinical Trials.

Frontiers In Aging Neuroscience
Coysh, Thomas T; Mead, Simon S
Publication Date: 2022

Variant appearance in text: CJD: E219G
PubMed Link: 35813946
Variant Present in the following documents:
  • Main text
  • fnagi-14-872629.pdf
View BVdb publication page



High diagnostic value of second generation CSF RT-QuIC across the wide spectrum of CJD prions.

Scientific Reports
Franceschini, Alessia A; Baiardi, Simone S; Hughson, Andrew G AG; McKenzie, Neil N; Moda, Fabio F; Rossi, Marcello M; Capellari, Sabina S; Green, Alison A; Giaccone, Giorgio G; Caughey, Byron B; Parchi, Piero P
Publication Date: 2017-09-06

Variant appearance in text: PRNP: E219G
PubMed Link: 28878311
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_10922.pdf
View BVdb publication page



Genomic Characteristics of Genetic Creutzfeldt-Jakob Disease Patients with V180I Mutation and Associations with Other Neurodegenerative Disorders.

Plos One
Lee, Sol Moe SM; Chung, Myungguen M; Hyeon, Jae Wook JW; Jeong, Seok Won SW; Ju, Young Ran YR; Kim, Heebal H; Lee, Jeongmin J; Kim, SangYun S; An, Seong Soo A SS; Cho, Sung Beom SB; Lee, Yeong Seon YS; Kim, Su Yeon SY
Publication Date: 2016

Variant appearance in text: CJD: E219G
PubMed Link: 27341347
Variant Present in the following documents:
  • pone.0157540.pdf
View BVdb publication page