Variant #0000419263 (NC_000001.10:g.45805907C>T, MUTYH(NM_001128425.1):c.20G>A)
Individual ID |
00203325 |
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.45805907C>T |
DNA change (hg38) |
g.45340235C>T |
Published as |
20G>A (Arg7His) |
ISCN |
- |
DB-ID |
MUTYH_000256 See all 3 reported entries |
Variant remarks |
- |
Reference |
Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Rikke Veggerby Groenlund |

Variant on transcripts
Screenings
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