PRNP c.595A>G ;(p.T199A)

Variant ID: 20-4680461-A-G

NM_000311.3(PRNP):c.595A>G;(p.T199A)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Effect of the E200K mutation on prion protein metabolism. Comparative study of a cell model and human brain.

The American Journal Of Pathology
Capellari, S S; Parchi, P P; Russo, C M CM; Sanford, J J; Sy, M S MS; Gambetti, P P; Petersen, R B RB
Publication Date: 2000-08

Variant appearance in text: CJD: T199A
PubMed Link: 10934164
Variant Present in the following documents:
  • Main text
View BVdb publication page