Full data view for gene PRNP

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

3 entries on 1 page. Showing entries 1 - 3.
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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.(178_201)[3] r.(?) p.(Pro60_Gln67)[3] - Parent #1 - likely benign g.4680044_4680067del - - - PRNP_000000 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. {PMID07783865:Reder 1995} - - Germline - - - - - DNA PCRdig, SEQ - - FFI - - - ? ? United States - - - - - 1 Johan den Dunnen
+?/. 2 c.201_202ins(168) r.(?) p.(Pro60_Gln67)[11] 12 Unknown - likely pathogenic g.4680067_4680068ins168 - 7-OPRI - PRNP_000000 12 haplotype (undetermined) PubMed: Owen 2014 - - Germline - - - 0 - DNA DSDI, SEQ - - ? - - - - - United Kingdom (Great Britain) - - 0 - - 1 J Beck
+?/. 2 c.201_202ins(216) r.(?) p.(Pro60_Gln67)[13] 14 Unknown - likely pathogenic g.4680067_4680068ins216 - 9-OPRI - PRNP_000000 14 haplotype (undetermined) PubMed: Owen 2014 - - Germline - - - 0 - DNA DSDI, SEQ - - ? - - - - - United Kingdom (Great Britain) - - 0 - - 1 J Beck
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