PRNP c.49A>G ;(p.S17G)

Variant ID: 20-4679915-A-G

NM_000311.3(PRNP):c.49A>G;(p.S17G)

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: PRNP: S17G
PubMed Link: 36614069
Variant Present in the following documents:
  • Main text
  • ijms-24-00625.pdf
View BVdb publication page



Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients.

Cells
Kim, Yong-Chan YC; Won, Sae-Young SY; Jeong, Byung-Hoon BH
Publication Date: 2020-06-17

Variant appearance in text: PRNP: S17G
PubMed Link: 32560489
Variant Present in the following documents:
  • Main text
  • cells-09-01480.pdf
View BVdb publication page



Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation.

Neuropsychiatric Disease And Treatment
Bagyinszky, Eva E; Kang, Min Ju MJ; Pyun, Jungmin J; Giau, Vo Van VV; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2019

Variant appearance in text: PRNP: Ser17Gly
PubMed Link: 31410005
Variant Present in the following documents:
  • Main text
  • ndt-15-2003.pdf
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Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases.

Neuropsychiatric Disease And Treatment
Bagyinszky, Eva E; Giau, Vo Van VV; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2018

Variant appearance in text: CJD: S17G
PubMed Link: 30147320
Variant Present in the following documents:
  • Main text
  • ndt-14-2067.pdf
View BVdb publication page