Variant #0000758286 (NC_000001.10:g.45800164C>T, MUTYH(NM_001128425.1):c.56G>A)
Individual ID |
00357425 |
Chromosome |
1 |
Allele |
Parent #1 |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
NA |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.45800164C>T |
DNA change (hg38) |
- |
Published as |
chr1_45800164_C_T |
ISCN |
- |
DB-ID |
MUTYH_000153 See all 4 reported entries |
Variant remarks |
the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types |
Reference |
PubMed: Dorling 2021, Journal: Dorling 2021 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
4/53461 controls |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
3.0E-5 View details |
Owner |
BRIDGES consortium |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
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