Variant #0000031019 (NC_000020.10:g.4680216_4680217inv, PRNP(NM_000311.3):c.350_351inv)
Individual ID |
00011464 |
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.4680216_4680217inv |
DNA change (hg38) |
g.4699570_4699571inv |
Published as |
[350C>T;351>4G] (A117V) |
ISCN |
- |
DB-ID |
PRNP_000019 See all 2 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) |
Variant not found in online data sets |
Owner |
J Beck |
Database submission license |
No license selected |
Created by |
J Beck |

Variant on transcripts
Screenings
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