All variants in the MUTYH gene


Information The variants shown are described using the NM_001128425.1 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 1i c.36+1G>A r.spl p.0? - - VUS g.45805890C>T g.45340218C>T - - MUTYH_000224 - DUPLICATE – to be removed - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
+/. 1i c.36+1G>A r.spl p.0? - - pathogenic g.45805890C>T g.45340218C>T - - MUTYH_000224 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. Redeker (unpublished); AMC, Amsterdam, NL - - Unknown - - - 0 - Bert Redeker
?/. 1i c.36+1G>A r.spl p.0? - - VUS g.45805890C>T g.45340218C>T - - MUTYH_000224 MSH2: c.1729T>C PubMed: Niessen et al. 2006 - - Germline - - - 0 - Astrid Out
?/. - c.36+1G>A r.spl? p.? - - NA g.45805890C>T - chr1_45805890_C_T - MUTYH_000224 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
Legend   How to query