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     
+?/. - c.2T>C r.(?) p.Met1? - ACMG likely pathogenic g.45805925A>G g.45340253A>G - - MUTYH_000360 ACMG grading: PM2,PVS1; CRC at age 42y, clinical poyposis, IHC: all 4 MMR genes axpressed, MSS - - rs865954220 Germline - - - 0 - Andreas Laner
?/. - c.2T>C r.? p.? - - NA g.45805925A>G - chr1_45805925_A_G - MUTYH_000360 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
?/. - c.2T>C r.? p.? - - NA g.45805925A>G - chr1_45805925_A_G - MUTYH_000360 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 - 2/53461 controls - 0 - BRIDGES consortium
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