Variant #0000038041 (NC_000020.10:g.4680091_4680092ins120, PRNP(NM_000311.3):c.225_226ins228_251{246A>G}[3]ins180_251)
Individual ID |
00017857 |
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.4680091_4680092ins120 |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
PRNP_000053 |
Variant remarks |
10 haplotype 1-2-2-3g-3g-3g-2-2-3-4 |
Reference |
PubMed: Skworc 1999 |
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
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