Variant #0000418592 (NC_000001.10:g.45810091A>G, MUTYH(NM_001128425.1):c.-216-3949T>C)
Individual ID |
00202902 |
Chromosome |
1 |
Allele |
Parent #1 |
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.45810091A>G |
DNA change (hg38) |
g.45344419A>G |
Published as |
- |
ISCN |
- |
DB-ID |
MUTYH_000039 See all 13 reported entries |
Variant remarks |
NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G |
Reference |
PubMed: Agalliu 2009 |
ClinVar ID |
- |
dbSNP ID |
rs9429072 |
Origin |
Unknown |
Segregation |
- |
Frequency |
637/2494=25.5% |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Astrid Out |

Variant on transcripts
Screenings
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