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 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
|
|