Variant #0000023021 (NC_000020.10:g.4680251A>G, PRNP(NM_000311.3):c.385A>G)

Individual ID 00004173
Chromosome 20
Allele Maternal (confirmed)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.4680251A>G
DNA change (hg38) g.4699605A>G
Published as -
ISCN -
DB-ID PRNP_000023 See all 23 reported entries
Variant remarks -
Reference {PMID07501157:Mastrianni 1995}
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.30969 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.385A>G r.(?) p.(Met129Val) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000004101 DNA PCRdig;SEQ - - PRNP 4 Johan den Dunnen