Variant #0000359463 (NC_000001.10:g.45797720C>G, MUTYH(NM_001128425.1):c.972G>C)
Individual ID |
00155689 |
Chromosome |
1 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.45797720C>G |
DNA change (hg38) |
g.45332048C>G |
Published as |
- |
ISCN |
- |
DB-ID |
MUTYH_000346 See all 16 reported entries |
Variant remarks |
- |
Reference |
contributed by Dept. of Dr Vaccaro |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (large NGS studies) |
1.0E-5 View details |
Owner |
Angela Solano & F Cardoso |

Variant on transcripts
Screenings
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