Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Gly533Ser (p.G533S)
(
ENST00000355710.8,
ENST00000615310.5,
ENST00000340058.6,
ENST00000713926.1 )
RET p.Gly533Cys (p.G533C) ( ENST00000615310.5, ENST00000355710.8, ENST00000713926.1, ENST00000340058.6 )
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.Cys618Ser (p.C618S) ( ENST00000615310.5, ENST00000355710.8, ENST00000713926.1, ENST00000340058.6 )
RET p.Cys618Arg (p.C618R) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys618Gly (p.C618G) ( ENST00000340058.6, ENST00000713926.1, ENST00000355710.8, ENST00000615310.5 )
RET p.Cys618Tyr (p.C618Y) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Cys618Ser (p.C618S) ( ENST00000713926.1, ENST00000340058.6, ENST00000615310.5, ENST00000355710.8 )
RET p.Cys618Phe (p.C618F) ( ENST00000713926.1, ENST00000340058.6, ENST00000615310.5, ENST00000355710.8 )
RET p.Cys620Tyr (p.C620Y) ( ENST00000713926.1, ENST00000340058.6, ENST00000615310.5, ENST00000355710.8 )
RET p.Cys620Ser (p.C620S) ( ENST00000355710.8, ENST00000340058.6, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys620Phe (p.C620F) ( ENST00000713926.1, ENST00000340058.6, ENST00000615310.5, ENST00000355710.8 )
RET p.Cys634Tyr (p.C634Y) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys634Ser (p.C634S) ( ENST00000615310.5, ENST00000355710.8, ENST00000713926.1, ENST00000340058.6 )
RET p.Cys634Phe (p.C634F) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Glu768= (p.E768=) ( ENST00000615310.5, ENST00000355710.8, ENST00000713926.1, ENST00000340058.6 )
RET p.Glu768Asp (p.E768D) ( ENST00000340058.6, ENST00000713926.1, ENST00000355710.8, ENST00000615310.5 )
RET p.Glu768Asp (p.E768D) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Leu790Phe (p.L790F) ( ENST00000615310.5, ENST00000355710.8, ENST00000713926.1, ENST00000340058.6 )
RET p.Leu790Phe (p.L790F) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Tyr791Phe (p.Y791F) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Val804Met (p.V804M) ( ENST00000713926.1, ENST00000340058.6, ENST00000355710.8, ENST00000615310.5 )
RET p.Val804Leu (p.V804L) ( ENST00000340058.6, ENST00000713926.1, ENST00000355710.8, ENST00000615310.5 )
RET p.Val804Leu (p.V804L) ( ENST00000355710.8, ENST00000713926.1, ENST00000615310.5, ENST00000340058.6 )
RET p.Ser891Ala (p.S891A) ( ENST00000355710.8, ENST00000340058.6, ENST00000615310.5, ENST00000713926.1 )
RET p.Arg912Gln (p.R912Q) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Arg912Pro (p.R912P) ( ENST00000713926.1, ENST00000340058.6, ENST00000615310.5, ENST00000355710.8 )
RET p.Arg912Leu (p.R912L) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Gly533Ser (p.G533S) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Gly533Cys (p.G533C) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
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.Cys618Ser (p.C618S) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys618Arg (p.C618R) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys618Gly (p.C618G) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys618Tyr (p.C618Y) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys618Ser (p.C618S) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys618Phe (p.C618F) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys620Tyr (p.C620Y) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys620Ser (p.C620S) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys620Phe (p.C620F) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys634Tyr (p.C634Y) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys634Ser (p.C634S) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys634Phe (p.C634F) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Glu768= (p.E768=) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Glu768Asp (p.E768D) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Glu768Asp (p.E768D) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Leu790Phe (p.L790F) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Leu790Phe (p.L790F) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Tyr791Phe (p.Y791F) ( ENST00000615310.5, ENST00000713926.1, ENST00000340058.6, ENST00000355710.8 )
RET p.Val804Met (p.V804M) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Val804Leu (p.V804L) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Val804Leu (p.V804L) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Ser891Ala (p.S891A) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Arg912Gln (p.R912Q) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Arg912Pro (p.R912P) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Arg912Leu (p.R912L) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys531delinsTrpArgSerVal (p.C531delinsWRSV)
RET p.Cys531_Gly532insArgSerVal (p.C531_G532insRSV)
RET p.Cys531delinsTrpArgSerVal (p.C531delinsWRSV)
RET p.Cys531_Gly532insArgSerVal (p.C531_G532insRSV) - Associated Disease
- familial medullary thyroid carcinoma
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.521802048300367
- Year of publication
- NA
Drugs