Full data view for gene PRNP

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

2 entries on 1 page. Showing entries 1 - 2.
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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.350_351inv r.(?) p.(Ala117Val) - Paternal (inferred) - pathogenic g.4680216_4680217inv g.4699570_4699571inv - - PRNP_000019 - {PMID07501157:Mastrianni 1995} - - Germline - - PvuII- - - DNA PCRdig, SEQ - - GSD - - 5-generation family, 11 affecteds ? ? United States - - - - - 11 Johan den Dunnen
+/. 2 c.350_351inv r.(?) p.(Ala117Val) - Parent #1 - pathogenic g.4680216_4680217inv g.4699570_4699571inv [350C>T;351>4G] (A117V) - PRNP_000019 - PubMed: Owen 2014 - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 J Beck
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