PRNP c.559_560delinsAG ;(p.H187S)

Variant ID: 20-4680425-CA-AG

NM_000311.3(PRNP):c.559_560delinsAG;(p.H187S)

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:

Stability and Cu(II) binding of prion protein variants related to inherited human prion diseases.

Biophysical Journal
Cereghetti, Grazia M GM; Schweiger, Arthur A; Glockshuber, Rudi R; Van Doorslaer, Sabine S
Publication Date: 2003-03

Variant appearance in text: CJD: H187S
PubMed Link: 12609901
Variant Present in the following documents:
  • Main text
View BVdb publication page