PRNP c.592T>G ;(p.F198V)

Variant ID: 20-4680458-T-G

NM_000311.3(PRNP):c.592T>G;(p.F198V)

This variant was identified in 2 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: F198V
PubMed Link: 36614069
Variant Present in the following documents:
  • Main text
  • ijms-24-00625.pdf
View BVdb publication page



Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Takada, Leonel T LT; Kim, Mee-Ohk MO; Cleveland, Ross W RW; Wong, Katherine K; Forner, Sven A SA; Gala, Ignacio Illán II; Fong, Jamie C JC; Geschwind, Michael D MD
Publication Date: 2017-01

Variant appearance in text: PRNP: F198V
PubMed Link: 27943639
Variant Present in the following documents:
  • Main text
View BVdb publication page