Variant #0000023039 (NC_000020.10:g.4680115_4680116ins48, PRNP(NM_000311.3):c.249_250ins204_227{222G>A}ins204_227{222G>A})

Individual ID 00004181
Chromosome 20
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.4680115_4680116ins48
DNA change (hg38) -
Published as -
ISCN -
DB-ID PRNP_000005
Variant remarks 7-haplotype 1-2-2-3-2a-2a-4
Reference {PMID08232966:Goldfarb 1993}
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
PRNP NM_000311.3 +?/? 2 c.249_250ins204_227{222G>A}ins204_227{222G>A} r.(?) p.(Pro60_Gln67)[6] -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000004109 DNA PCRdig;SEQ - - PRNP 1 Johan den Dunnen