Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Cys620Ser (p.C620S)
(
ENST00000713926.1,
ENST00000340058.6,
ENST00000615310.5,
ENST00000355710.8 )
RET p.Cys620Arg (p.C620R) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Cys620Gly (p.C620G) ( ENST00000713926.1, ENST00000340058.6, ENST00000615310.5, ENST00000355710.8 )
RET p.Cys620Ser (p.C620S) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys620Arg (p.C620R) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys620Gly (p.C620G) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- Hirschsprung Disease
- Source Database
- DisGeNET
- Description
- RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family.
- Pubmed
- 22584707
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.528543720082936
- Year of publication
- 2012
Drugs