Variant #0000038020 (NC_000020.10:g.4680365G>A, PRNP(NM_000311.3):c.499G>A)

Individual ID 00017844
Chromosome 20
Allele Maternal (confirmed)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.4680365G>A
DNA change (hg38) g.4699719G>A
Published as -
ISCN -
DB-ID PRNP_000043
Variant remarks -
Reference PubMed: Beck 2010
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 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.499G>A r.(?) p.(Asp167Asn) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000017825 DNA SEQ - - PRNP 1 Johan den Dunnen