Variant #0000419064 (NC_000001.10:g.45805624G>A, MUTYH(NM_001128425.1):c.36+267C>T)
Individual ID |
00203202 |
Chromosome |
1 |
Allele |
Unknown |
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.45805624G>A |
DNA change (hg38) |
g.45339952G>A |
Published as |
- |
ISCN |
- |
DB-ID |
MUTYH_000200 See all 2 reported entries |
Variant remarks |
Beta transcript: NM_001048174.1:c.-60C>T (ex1) ; Gamma: NM_001048173.1:c.-7+24C>T (IVS1+24C>T); not on putative TF binding seq (www.genomatix.de/matinspector.html). Contains GAGA box seq in opposite orientation; 301 bp upstream of initiation codon TOE1 |
Reference |
PubMed: Goto 2008 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
1/46 alleles |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00368 View details |
Owner |
Astrid Out |

Variant on transcripts
Screenings
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