All variants in the PRNP gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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.160G>A r.(?) p.(Gly54Ser) - - pathogenic g.4680026G>A g.4699380G>A - - PRNP_000040 - PubMed: Owen 2014 - - Germline - - - 0 - J Beck
-?/. 2 c.160G>A r.(?) p.(Gly54Ser) - - likely benign g.4680026G>A g.4699380G>A - - PRNP_000040 - PubMed: Beck 2010 - - Unknown - - - 0 - Johan den Dunnen
-?/. 2 c.160G>A r.(?) p.(Gly54Ser) - - likely benign g.4680026G>A g.4699380G>A - - PRNP_000040 variant also found in CEPH control panel (2 Pakistani liguistic groups, low levels China and Middle East) PubMed: Beck 2010 - - Unknown ? 5 groups - 0 - Johan den Dunnen
?/. - c.160G>A r.(?) p.(Gly54Ser) - - VUS g.4680026G>A - PRNP(NM_000311.4):c.160G>A (p.G54S) - PRNP_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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