All variants in the MUTYH gene


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

6 entries on 1 page. Showing entries 1 - 6.
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     
+/. 2 c.55C>T r.(55c>u) p.(Arg19X) - - pathogenic g.45800165G>A g.45334493G>A - - MUTYH_000205 - DUPLICATE – to be removed - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
+/. 2 c.55C>T r.(55c>u) p.(Arg19X) - - pathogenic g.45800165G>A g.45334493G>A - - MUTYH_000205 - PubMed: Vogt 2009 - - Germline - - - 0 - Stefan Aretz
?/. - c.55C>T r.(?) p.(Arg19*) - - NA g.45800165G>A - chr1_45800165_G_A - MUTYH_000205 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 - 6/60466 cases - 0 - BRIDGES consortium
?/. - c.55C>T r.(?) p.(Arg19*) - - NA g.45800165G>A - chr1_45800165_G_A - MUTYH_000205 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 - 8/53461 controls - 0 - BRIDGES consortium
+?/. - c.55C>T r.(?) p.(Arg19Ter) - - pathogenic g.45800165G>A g.45334493G>A - - MUTYH_000205 - PubMed: Jiang 2022 - - Germline/De novo (untested) - 1/486 cases - 0 - Johan den Dunnen
+/. - c.55C>T r.(?) p.(Arg19Ter) - - pathogenic g.45800165G>A g.45334493G>A - - MUTYH_000205 - PubMed: Jiang 2022 - - Germline/De novo (untested) - 1/486 cases - 0 - Johan den Dunnen
Legend   How to query