Variant #0000569883 (NC_000020.10:g.4680521G>A, PRNP(NM_000311.3):c.655G>A)

Chromosome 20
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.4680521G>A
DNA change (hg38) g.4699875G>A
Published as PRNP(NM_000311.3):c.655G>A (p.(Glu219Lys)), PRNP(NM_000311.4):c.655G>A (p.E219K)
ISCN -
DB-ID PRNP_000038 See all 7 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00816 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
PRNP NM_000311.3 -?/. - c.655G>A r.(?) p.(Glu219Lys) -