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.
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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.56G>A r.(56g>a) p.(Arg19Gln) - - VUS g.45800164C>T g.45334492C>T - - MUTYH_000153 - DUPLICATE – to be removed - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. 2 c.56G>A r.(56g>a) p.(Arg19Gln) - - VUS g.45800164C>T g.45334492C>T - - MUTYH_000153 - Clinical Genetics, LUMC, Leiden, NL - - Germline - - - 0 - Carli Tops
?/. - c.56G>A r.(?) p.(Arg19Gln) - - NA g.45800164C>T - chr1_45800164_C_T - MUTYH_000153 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 - 3/60466 cases - 0 - BRIDGES consortium
?/. - c.56G>A r.(?) p.(Arg19Gln) - - NA g.45800164C>T - chr1_45800164_C_T - MUTYH_000153 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 - 4/53461 controls - 0 - BRIDGES consortium
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