All variants in the MUTYH gene


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

2 entries on 1 page. Showing entries 1 - 2.
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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.49A>T r.(49a>u) p.(Lys17X) - - pathogenic g.45800171T>A g.45334499T>A - - MUTYH_000179 - DUPLICATE – to be removed - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
+/. 2 c.49A>T r.(49a>u) p.(Lys17X) - - pathogenic g.45800171T>A g.45334499T>A - - MUTYH_000179 - MGZ, Munchen, DE - - Unknown - - - 0 - Elke Holinski-Feder
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