All variants in the PRNP gene

Information The variants shown are described using the NM_000311.3 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/? 2 c.628G>A r.(?) p.(Val210Ile) - - pathogenic g.4680494G>A g.4699848G>A - - PRNP_000035 incomplete penetrance {PMID07902693:Pocchiari 1993} - - Germline - - - - - Johan den Dunnen
+/? 2 c.628G>A r.(?) p.(Val210Ile) - - pathogenic g.4680494G>A g.4699848G>A - - PRNP_000035 incomplete penetrance {PMID07902693:Pocchiari 1993} - - Germline - - - - - Johan den Dunnen
+/? 2 c.628G>A r.(?) p.(Val210Ile) - - pathogenic g.4680494G>A g.4699848G>A - - PRNP_000035 incomplete penetrance {PMID07902693:Pocchiari 1993} - - Germline - - - - - Johan den Dunnen
+/? 2 c.628G>A r.(?) p.(Val210Ile) - - pathogenic g.4680494G>A g.4699848G>A - - PRNP_000035 incomplete penetrance {PMID07902693:Pocchiari 1993} - - Germline - - - - - Johan den Dunnen
?/? 2 c.628G>A r.(?) p.(Val210Ile) - - VUS g.4680494G>A g.4699848G>A - - PRNP_000035 - - - rs74315407 Unknown - - - - - Johan den Dunnen
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