PRNP c.523_524delinsGC ;(p.F175A)

Variant ID: 20-4680389-TT-GC

NM_000311.3(PRNP):c.523_524delinsGC;(p.F175A)

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:

Atomic insights into the effects of pathological mutants through the disruption of hydrophobic core in the prion protein.

Scientific Reports
Lee, Juhwan J; Chang, Iksoo I; Yu, Wookyung W
Publication Date: 2019-12-16

Variant appearance in text: CJD: F175A
PubMed Link: 31844149
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_55661.pdf
View BVdb publication page