Variant #0000620653 (NC_000001.10:g.45808676_45808754del, MUTYH(NM_001128425.1):c.-2826_-2748del)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.45808676_45808754del
DNA change (hg38) g.45343004_45343082del
Published as TOE1(NM_025077.4):c.912_913-2del
ISCN -
DB-ID TESK2_000009
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) Variant not found in online data sets
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.-2826_-2748del r.(?) p.(=) -
TESK2 NM_007170.2 +?/. - c.*1760_*1838del r.(=) p.(=) -
TOE1 NM_025077.3 +?/. - c.912+2_913del r.spl? p.? -