Variant #0000023200 (NC_000020.10:g.4680501A>G, PRNP(NM_000311.3):c.635A>G)

Individual ID 00004300
Chromosome 20
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.4680501A>G
DNA change (hg38) g.4699855A>G
Published as -
ISCN -
DB-ID PRNP_000042
Variant remarks -
Reference PubMed: Beck 2010, 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.635A>G r.(?) p.(Gln212Arg) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000004228 DNA SEQ - - PRNP 1 J Beck