Variant #0000023018 (NC_000020.10:g.4680216_4680217inv, PRNP(NM_000311.3):c.350_351inv)
Individual ID |
00004173 |
Chromosome |
20 |
Allele |
Paternal (inferred) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.4680216_4680217inv |
DNA change (hg38) |
g.4699570_4699571inv |
Published as |
- |
ISCN |
- |
DB-ID |
PRNP_000019 See all 2 reported entries |
Variant remarks |
- |
Reference |
{PMID07501157:Mastrianni 1995} |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
PvuII- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
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