Variant #0000023096 (NC_000020.10:g.4680156G>A, PRNP(NM_000311.3):c.290G>A)

Individual ID 00004211
Chromosome 20
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.4680156G>A
DNA change (hg38) g.4699510G>A
Published as -
ISCN -
DB-ID PRNP_000016
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs56362942
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
PRNP NM_000311.3 ?/? 2 c.290G>A r.(?) p.(Ser97Asn) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000004139 DNA SEQ - - PRNP 11 Johan den Dunnen