Variant #0000367864 (NC_000001.10:g.45805566C>G, MUTYH(NM_001128425.1):c.36+325G>C)
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.45805566C>G |
DNA change (hg38) |
- |
Published as |
IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) |
ISCN |
- |
DB-ID |
MUTYH_000004 See all 15 reported entries |
Variant remarks |
Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. |
Reference |
DUPLICATE – to be removed |
ClinVar ID |
- |
dbSNP ID |
rs3219468 |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
InSiGHT - John-Paul Plazzer |

Variant on transcripts
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