Variant #0000023070 (NC_000020.10:g.4680473G>A, PRNP(NM_000311.3):c.607G>A)

Individual ID 00004199
Chromosome 20
Allele Parent #1
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.4680473G>A
DNA change (hg38) g.4699827G>A
Published as 656G>A
ISCN -
DB-ID PRNP_000032
Variant remarks weakly causative
Reference {PMID10790216:Peoc'h 2000}
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site HpaI+
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
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.607G>A r.(?) p.(Val203Ile) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000004127 DNA PCRdig;SEQ - - PRNP 1 Johan den Dunnen