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PRNP c.606C>T ;(p.D202=)
Variant ID: 20-4680472-C-T
NM_000311.3(
PRNP
):c.606C>T;(p.D202=)
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:
PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism.
Bmc Medical Genetics
Bishop, Matthew T MT; Pennington, Catherine C; Heath, Craig A CA; Will, Robert G RG; Knight, Richard S G RS
Publication Date: 2009-12-26
Variant appearance in text: CJD: D202D
PubMed Link:
20035629
Variant Present in the following documents:
Main text
1471-2350-10-146.pdf
View BVdb publication page