Variant #0000368124 (NC_000001.10:g.45808863G>A, MUTYH(NM_001128425.1):c.-216-2721C>T)
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.45808863G>A |
DNA change (hg38) |
g.45343191G>A |
Published as |
NT_032977.9:g.15780781G>A; rs9429157 |
ISCN |
- |
DB-ID |
MUTYH_000288 See all 7 reported entries |
Variant remarks |
- |
Reference |
DUPLICATE – to be removed |
ClinVar ID |
- |
dbSNP ID |
rs9429157 |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.02388 View details |
Owner |
InSiGHT - John-Paul Plazzer |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
|
|