Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Cys609Ser (p.C609S)
(
ENST00000713926.1,
ENST00000340058.6,
ENST00000615310.5,
ENST00000355710.8 )
RET p.Cys609Arg (p.C609R) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Cys609Gly (p.C609G) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Cys609Tyr (p.C609Y) ( ENST00000355710.8, ENST00000340058.6, ENST00000713926.1, ENST00000615310.5 )
RET p.Cys609Ser (p.C609S) ( ENST00000340058.6, ENST00000713926.1, ENST00000355710.8, ENST00000615310.5 )
RET p.Cys609Phe (p.C609F) ( ENST00000615310.5, ENST00000355710.8, ENST00000713926.1, ENST00000340058.6 )
RET p.Cys609Ser (p.C609S) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys609Arg (p.C609R) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys609Gly (p.C609G) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys609Tyr (p.C609Y) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys609Ser (p.C609S) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys609Phe (p.C609F) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- Hyperparathyroidism, Primary
- Source Database
- DisGeNET
- Description
- In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation predispose to a scarcely aggressive, highly penetrant MTC and a low penetrance of pheochromocytoma and primary hyperparathyroidism.
- Pubmed
- 19475497
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00625309457951112
- Year of publication
- 2009
Drugs