Variant #0000023204 (NC_000020.10:g.4680091_4680092ins96, PRNP(NM_000311.3):c.225_226ins204_227[4])

Individual ID 00004304
Chromosome 20
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.4680091_4680092ins96
DNA change (hg38) -
Published as 4-OPRI
ISCN -
DB-ID PRNP_000054
Variant remarks 9 haplotype 1-2-2-2-2-2-2-3-4
Reference PubMed: Owen 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner J Beck
Database submission license No license selected
Created by J Beck
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
PRNP NM_000311.3 +?/. 2 c.225_226ins204_227[4] r.(?) p.(Pro60_Gln67)[8] 9



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000004232 DNA SEQ - - PRNP 1 J Beck