All variants in the PRNP gene

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

10 entries on 1 page. Showing entries 1 - 10.
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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.314C>T r.(?) p.(Pro105Leu) - - pathogenic g.4680180C>T g.4699534C>T - - PRNP_000018 - {PMID08461023:Kitamoto 1993} - - Germline - - AluI+ - - Johan den Dunnen
+/? 2 c.314C>T r.(?) p.(Pro105Leu) - - pathogenic g.4680180C>T g.4699534C>T - - PRNP_000018 - {PMID08461023:Kitamoto 1993} - - Germline - - AluI+ - - Johan den Dunnen
+/? 2 c.314C>T r.(?) p.(Pro105Leu) - - pathogenic g.4680180C>T g.4699534C>T - - PRNP_000018 - {PMID08461023:Kitamoto 1993} - - Germline - - AluI+ - - Johan den Dunnen
+/? 2 c.314C>T r.(?) p.(Pro105Leu) - - pathogenic g.4680180C>T g.4699534C>T - - PRNP_000018 - {PMID10408557:Yamada 1993} - - Germline - - - - - Johan den Dunnen
+/? 2 c.314C>T r.(?) p.(Pro105Leu) - - pathogenic g.4680180C>T g.4699534C>T - - PRNP_000018 - {PMID10408557:Yamada 1993} - - Germline - - - - - Johan den Dunnen
?/? 2 c.314C>T r.(?) p.(Pro105Leu) - - VUS g.4680180C>T g.4699534C>T - - PRNP_000018 - - - rs11538758 Unknown - - - - - Johan den Dunnen
+/. 2 c.314C>T r.(?) p.(Pro105Leu) - - pathogenic g.4680180C>T g.4699534C>T - - PRNP_000018 - PubMed: Beck 2010 - - De novo yes - - 0 - Johan den Dunnen
+/. 2 c.314C>T r.(?) p.(Pro105Leu) - - pathogenic g.4680180C>T g.4699534C>T - - PRNP_000018 - PubMed: Owen 2014 - - Germline - - - 0 - J Beck
+/. - c.314C>T r.(?) p.(Pro105Leu) - ACMG pathogenic (dominant) g.4680180C>T g.4699534C>T - - PRNP_000018 - PubMed: Helbig 2016 - - De novo - - - 0 - Johan den Dunnen
+/. - c.314C>T r.(?) p.(Pro105Leu) - - pathogenic g.4680180C>T - PRNP(NM_000311.4):c.314C>T (p.P105L) - PRNP_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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