Annotation Detail
Information
- Associated Genes
- MUTYH
- Associated Variants
-
MUTYH p.Arg242His (p.R242H), ENSG00000288208 p.Arg413His (p.R413H)
(
ENST00000456914.7,
ENST00000372115.7,
ENST00000355498.6,
ENST00000372110.7,
ENST00000448481.5,
ENST00000354383.10,
ENST00000372098.7,
ENST00000412971.6,
ENST00000372104.5,
ENST00000483127.2,
ENST00000488731.6,
ENST00000528013.6,
ENST00000529984.5,
ENST00000710952.2,
ENST00000713750.1,
ENST00000713751.1,
ENST00000529892.6,
ENST00000531105.5,
ENST00000672314.2,
ENST00000672818.3 )
MUTYH p.Arg242His (p.R242H), ENSG00000288208 p.Arg413His (p.R413H) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 ) - Associated Disease
- Multiple polyps
- Source Database
- DisGeNET
- Description
- Among patients with a family history compatible with autosomal recessive inheritance (n=45), 1 (10.0%) out of 10 classical polyposis and 6 (17.1%) out of 35 attenuated polyposis patients carried biallelic MYH alterations, 2 of which represent novel gene variants (p.R171Q and p.R231H).
- Pubmed
- 16287072
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0133006517319349
- Year of publication
- 2006
Drugs