All variants in the PRNP gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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.532G>A r.(?) p.(Asp178Asn) - - pathogenic g.4680398G>A g.4699752G>A - - PRNP_000026 - {PMID07783865:Reder 1995} - - Germline - - - - - Johan den Dunnen
+/? 2 c.532G>A r.(?) p.(Asp178Asn) - - pathogenic g.4680398G>A g.4699752G>A - - PRNP_000026 - {PMID01357594:Bosque 1992} - - Germline - - TthIII1- - - Johan den Dunnen
+?/. 2 c.532G>A r.(?) p.(Asp178Asn) - - likely pathogenic g.4680398G>A g.4699752G>A - - PRNP_000026 - PubMed: Owen 2014 - - Germline - - - 0 - J Beck
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