Full data view for gene PRNP

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

7 entries on 1 page. Showing entries 1 - 7.
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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.305C>T r.(?) p.(Pro102Leu) - Parent #1 - pathogenic g.4680171C>T g.4699525C>T - - PRNP_000017 - {PMID02564168:Hsiao 1989} - - Germline - - DdeI+ - - DNA PCRdig, SEQ - - GSD - - 4-generation family, 4 affecteds ? ? United States - - - - - 4 Johan den Dunnen
+/? 2 c.305C>T r.(?) p.(Pro102Leu) - Parent #1 - pathogenic g.4680171C>T g.4699525C>T - - PRNP_000017 - {PMID02564168:Hsiao 1989} - - Germline - - DdeI+ - - DNA PCRdig, SEQ - - GSD - - 4-generation family, 19 affecteds ? ? United Kingdom (Great Britain) - - - - - 19 Johan den Dunnen
+/? 2 c.305C>T r.(?) p.(Pro102Leu) - Parent #1 - pathogenic g.4680171C>T g.4699525C>T - - PRNP_000017 - {PMID10889337:Muramoto 2000} - - Germline - - DdeI+ - - DNA, protein PCRdig, SEQ - - GSD - - - ? ? Japan - - - - - 1 Johan den Dunnen
+/? 2 c.305C>T r.(?) p.(Pro102Leu) - Parent #1 - pathogenic g.4680171C>T g.4699525C>T - - PRNP_000017 - {PMID10889337:Muramoto 2000} - - Germline - - DdeI+ - - DNA, protein PCRdig, SEQ - - GSD - - - ? ? Japan - - - - - 1 Johan den Dunnen
+/? 2 c.305C>T r.(?) p.(Pro102Leu) - Parent #1 - pathogenic g.4680171C>T g.4699525C>T - - PRNP_000017 - {PMID02572450:Goldgaber 1989} - - Germline - - - - - DNA PCRdig, SEQ - - GSD - - family, 3 affecteds ? ? ? (unknown) - - - - - 3 Johan den Dunnen
+/. 2 c.305C>T r.(?) p.(Pro102Leu) - Parent #1 - pathogenic g.4680171C>T g.4699525C>T - - PRNP_000017 - PubMed: Owen 2014 - - Germline - - - 0 - DNA SEQ - - CJD - PubMed: Owen 2014 - - - - - - 0 - - 135 J Beck
+/. 2 c.305C>T r.(?) p.(Pro102Leu) - Maternal (inferred) - likely pathogenic g.4680171C>T g.4699525C>T - - PRNP_000017 - PubMed: Beck 2010 - - Unknown ? - - 0 - DNA SEQ - - GSD - PubMed: Beck 2010 small family, affected male, affected untested brother, sister and mother - - Italy Sicily >61y 0 - - 1 Johan den Dunnen
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