All variants in the PRNP gene

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

8 entries on 1 page. Showing entries 1 - 8.
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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.598G>A r.(?) p.(Glu200Lys) - - pathogenic g.4680464G>A g.4699818G>A - - PRNP_000031 - {PMID10672318:Seno 2000} - - Germline - - - - - Johan den Dunnen
+/? 2 c.598G>A r.(?) p.(Glu200Lys) - - pathogenic g.4680464G>A g.4699818G>A - - PRNP_000031 - {PMID10672318:Seno 2000} - - Germline - - - - - Johan den Dunnen
+/? 2 c.598G>A r.(?) p.(Glu200Lys) - - pathogenic g.4680464G>A g.4699818G>A - - PRNP_000031 - {PMID10672318:Seno 2000} - - Germline - - - - - Johan den Dunnen
+/? 2 c.598G>A r.(?) p.(Glu200Lys) - - pathogenic g.4680464G>A g.4699818G>A - - PRNP_000031 - {PMID10672318:Seno 2000} - - Germline - - - - - Johan den Dunnen
+/? 2 c.598G>A r.(?) p.(Glu200Lys) - - pathogenic g.4680464G>A g.4699818G>A - - PRNP_000031 - {PMID02572450:Goldgaber 1989} - - Germline - - - - - Johan den Dunnen
+/? 2 c.598G>A r.(?) p.(Glu200Lys) - - pathogenic g.4680464G>A g.4699818G>A - - PRNP_000031 - {PMID01347972:Vnencak-Jones 1992} - - Germline - - - - - Johan den Dunnen
?/? 2 c.598G>A r.(?) p.(Glu200Lys) - - VUS g.4680464G>A g.4699818G>A - - PRNP_000031 - - - rs28933385 Unknown - - - - - Johan den Dunnen
+?/. 2 c.598G>A r.(?) p.(Glu200Lys) - - likely pathogenic g.4680464G>A g.4699818G>A - - PRNP_000031 - PubMed: Owen 2014 - - Germline - - - 0 - J Beck
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