Annotation Detail

Information
Associated Genes
RET
Associated Variants
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.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 )
Associated Disease
Precancerous Conditions
Source Database
DisGeNET
Description
CCH associated with V804M RET mutation is a precancerous condition and surgery is recommended.
Pubmed
18299477
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2008
Drugs