Variant #0000439057 (NC_000001.10:g.45805925A>G, MUTYH(NM_001128425.1):c.2T>C)
Individual ID |
00207947 |
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.45805925A>G |
DNA change (hg38) |
g.45340253A>G |
Published as |
- |
ISCN |
- |
DB-ID |
MUTYH_000360 See all 3 reported entries |
Variant remarks |
ACMG grading: PM2,PVS1; CRC at age 42y, clinical poyposis, IHC: all 4 MMR genes axpressed, MSS |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
rs865954220 |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
Owner |
Andreas Laner |

Variant on transcripts
Screenings
|
|