Variant #0000282708 (NC_000001.10:g.45805566G>C, MUTYH(NM_001128425.1):c.36+325C>G)

Chromosome 1
Allele Unknown
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.45805566G>C
DNA change (hg38) g.45339894G>C
Published as MUTYH(NM_001128425.1):c.36+325C>G, TOE1(NM_025077.4):c.-359G>C
ISCN -
DB-ID MUTYH_000004 See all 15 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.98966 View details
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 -/. - c.36+325C>G r.(=) p.(=) -
TESK2 NM_007170.2 -/. - c.*4946C>G r.(=) p.(=) -
TOE1 NM_025077.3 -/. - c.-359G>C r.(?) p.(=) -