Full data view for gene PRNP

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

10 entries on 1 page. Showing entries 1 - 10.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/? 2 c.314C>T r.(?) p.(Pro105Leu) - Parent #1 - pathogenic g.4680180C>T g.4699534C>T - - PRNP_000018 - {PMID08461023:Kitamoto 1993} - - Germline - - AluI+ - - DNA PCRdig, SEQ - - GSD - - - ? ? Japan - - - - - 1 Johan den Dunnen
+/? 2 c.314C>T r.(?) p.(Pro105Leu) - Parent #1 - pathogenic g.4680180C>T g.4699534C>T - - PRNP_000018 - {PMID08461023:Kitamoto 1993} - - Germline - - AluI+ - - DNA PCRdig, SEQ - - GSD - - - ? ? Japan - - - - - 1 Johan den Dunnen
+/? 2 c.314C>T r.(?) p.(Pro105Leu) - Parent #1 - pathogenic g.4680180C>T g.4699534C>T - - PRNP_000018 - {PMID08461023:Kitamoto 1993} - - Germline - - AluI+ - - DNA PCRdig, SEQ - - GSD - - - ? ? Japan - - - - - 1 Johan den Dunnen
+/? 2 c.314C>T r.(?) p.(Pro105Leu) - Parent #1 - pathogenic g.4680180C>T g.4699534C>T - - PRNP_000018 - {PMID10408557:Yamada 1993} - - Germline - - - - - DNA PCRdig, SEQ - - DEM - - 3-generation family, 2 affected brothers ? ? Japan - - - - - 2 Johan den Dunnen
+/? 2 c.314C>T r.(?) p.(Pro105Leu) - Paternal (confirmed) - pathogenic g.4680180C>T g.4699534C>T - - PRNP_000018 - {PMID10408557:Yamada 1993} - - Germline - - - - - DNA PCRdig, SEQ - - Healthy/Control - - 3-generation family, young son affected brother ? ? Japan - - - - - 1 Johan den Dunnen
?/? 2 c.314C>T r.(?) p.(Pro105Leu) - Parent #1 - VUS g.4680180C>T g.4699534C>T - - PRNP_000018 - - - rs11538758 Unknown - - - - - DNA SEQ - - Healthy/Control - - - ? ? - (not applicable) - - - - - 1 Johan den Dunnen
+/. 2 c.314C>T r.(?) p.(Pro105Leu) - Paternal (inferred) - pathogenic g.4680180C>T g.4699534C>T - - PRNP_000018 - PubMed: Beck 2010 - - De novo yes - - 0 - DNA SEQ - - PRND - PubMed: Beck 2010 - F ? United Kingdom (Great Britain) - >43y 0 - - 1 Johan den Dunnen
+/. 2 c.314C>T r.(?) p.(Pro105Leu) - Parent #1 - pathogenic g.4680180C>T g.4699534C>T - - PRNP_000018 - PubMed: Owen 2014 - - Germline - - - 0 - DNA SEQ - - ? - - - - - United Kingdom (Great Britain) - - 0 - - 1 J Beck
+/. - c.314C>T r.(?) p.(Pro105Leu) - Unknown ACMG pathogenic (dominant) g.4680180C>T g.4699534C>T - - PRNP_000018 - PubMed: Helbig 2016 - - De novo - - - 0 - DNA SEQ-NG - WES seizures Pat86 PubMed: Helbig 2016 - - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.314C>T r.(?) p.(Pro105Leu) - Unknown - pathogenic g.4680180C>T - PRNP(NM_000311.4):c.314C>T (p.P105L) - PRNP_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query