Variant #0000038044 (NC_000020.10:g.4680464G>A, PRNP(NM_000311.3):c.598G>A)

Individual ID 00017860
Chromosome 20
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.4680464G>A
DNA change (hg38) g.4699818G>A
Published as -
ISCN -
DB-ID PRNP_000031 See all 8 reported entries
Variant remarks -
Reference PubMed: Owen 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner J Beck
Database submission license No license selected
Created by J Beck
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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.598G>A r.(?) p.(Glu200Lys) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000017841 DNA SEQ - - PRNP 1 J Beck