Variant #0000507692 (NC_000001.10:g.45808833C>T, MUTYH(NM_001128425.1):c.-2907G>A)
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.45808833C>T |
DNA change (hg38) |
g.45343161C>T |
Published as |
TOE1(NM_025077.4):c.992C>T (p.A331V) |
ISCN |
- |
DB-ID |
TESK2_000006 |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
Owner |
VKGL-NL_Rotterdam |

Variant on transcripts
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