Variant #0000038040 (NC_000020.10:g.4680115_4680116ins120, PRNP(NM_000311.3):c.249_250ins180_227ins180_251)

Individual ID 00017856
Chromosome 20
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.4680115_4680116ins120
DNA change (hg38) -
Published as -
ISCN -
DB-ID PRNP_000052
Variant remarks 10 haplotype 1-2-2-3-2-2-2-2-3-4
Reference PubMed: Cochrane 1996
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 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.249_250ins180_227ins180_251 r.(?) p.(Pro60_Gln67)[9] 10



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000017837 DNA SEQ - - PRNP 1 Johan den Dunnen