Variant #0000419126 (NC_000001.10:g.45805890C>T, MUTYH(NM_001128425.1):c.36+1G>A)

Individual ID 00203246
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.45805890C>T
DNA change (hg38) g.45340218C>T
Published as -
ISCN -
DB-ID MUTYH_000224 See all 4 reported entries
Variant remarks Alamut: affects donor splice site intron 1; skip exon 1 very likely; first ATG of alpha transcript in exon 1; two alternative ATG codons in exon 2 (beta + gamma transcripts) and 4 (beta4 + gamma4); effect on alpha transript difficult to predict.
Reference Redeker (unpublished); AMC, Amsterdam, NL
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Bert Redeker
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 +/. 1i c.36+1G>A r.spl p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000204277 DNA SEQ - - MUTYH 1 Bert Redeker