Variant #0000023202 (NC_000020.10:g.4680067_4680068ins120, PRNP(NM_000311.3):c.203_204ins228_251ins204_251ins204_251{246A>G})

Individual ID 00004302
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.4680067_4680068ins120
DNA change (hg38) -
Published as 5-OPRI
ISCN -
DB-ID PRNP_000048
Variant remarks 10 haplotype 1-2-3-2-3-2-3g-2-3-4 (South African)
Reference PubMed: Owen 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner J Beck
Database submission license No license selected
Created by J Beck
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
PRNP NM_000311.3 +?/. 2 c.203_204ins228_251ins204_251ins204_251{246A>G} r.(?) p.(Pro60_Gln67)[9] 10



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000004230 DNA SEQ - - PRNP 1 J Beck