Individual #00004489

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country United Kingdom (Great Britain)
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name J Beck
Database submission license No license selected
Created by J Beck


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000004417 DNA DSDI;SEQ - - PRNP 1 J Beck



Variants

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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA 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     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
20 Unknown +?/. - likely pathogenic g.4680067_4680068ins216 - 9-OPRI - PRNP_000000 14 haplotype (undetermined) PubMed: Owen 2014 - - Germline - - - 0 - J Beck PRNP - - - - 2 NM_000311.3:c.201_202ins(216) 14 r.(?) p.(Pro60_Gln67)[13] - - - - - - - - - - - - - - - - - - -
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