Variant #0000419873 (NC_000001.10:g.45808863G>A, MUTYH(NM_001128425.1):c.-216-2721C>T)
Individual ID |
00203708 |
Chromosome |
1 |
Allele |
Parent #2 |
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 |
NT_032977.9:g.15780781G>A; NG_008189.1:g.2280C>T; NM_025077.3(TOE1):c.1022G>A; NP_079353.3(TOE1):p.Arg341His |
Reference |
PubMed: Schafmayer 2007 |
ClinVar ID |
- |
dbSNP ID |
rs9429157 |
Origin |
Germline |
Segregation |
- |
Frequency |
1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.02388 View details |
Owner |
Astrid Out |

Variant on transcripts
Screenings
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