All variants in the MUTYH gene


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

3 entries on 1 page. Showing entries 1 - 3.
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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     
?/. 1 c.8C>T r.(=) p.(Pro3Leu) - - VUS g.45805919G>A g.45340247G>A - - MUTYH_000178 - DUPLICATE – to be removed - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1 c.8C>T r.(=) p.(Pro3Leu) - - VUS g.45805919G>A g.45340247G>A - - MUTYH_000178 - MGZ, Munchen, DE - - Unknown - - - 0 - Elke Holinski-Feder
?/. - c.8C>T r.(?) p.(Pro3Leu) - - NA g.45805919G>A - chr1_45805919_G_A - MUTYH_000178 not in 60466 cases; 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 - 1/53461 controls - 0 - BRIDGES consortium
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