Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Ser649Leu (p.S649L)
(
ENST00000355710.8,
ENST00000340058.6,
ENST00000615310.5,
ENST00000713926.1 )
RET p.Tyr791Phe (p.Y791F) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Ser649Leu (p.S649L) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Tyr791Phe (p.Y791F) ( ENST00000615310.5, ENST00000713926.1, ENST00000340058.6, ENST00000355710.8 ) - Associated Disease
- multiple endocrine neoplasia type 2A
- Source Database
- DisGeNET
- Description
- RET p.Tyr791Phe and p.Ser649Leu and VHL p.Pro81Ser are definitely not pathogenic mutations for VHL and MEN 2.
- Pubmed
- 19906784
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.613995490717024
- Year of publication
- 2010
Drugs