PRNP c.508A>G ;(p.S170G)

Variant ID: 20-4680374-A-G

NM_000311.3(PRNP):c.508A>G;(p.S170G)

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:

Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis.

Annals Of Clinical And Translational Neurology
Capellari, Sabina S; Baiardi, Simone S; Rinaldi, Rita R; Bartoletti-Stella, Anna A; Graziano, Claudio C; Piras, Silvia S; Calandra-Buonaura, Giovanna G; D'Angelo, Roberto R; Terziotti, Camilla C; Lodi, Raffaele R; Donadio, Vincenzo V; Pironi, Loris L; Cortelli, Pietro P; Parchi, Piero P
Publication Date: 2018-06

Variant appearance in text: PRNP: 508A>G
PubMed Link: 29928661
Variant Present in the following documents:
  • Main text
  • ACN3-5-777.pdf
View BVdb publication page