Annotation Detail

Information
Associated Genes
RET
Associated Variants
RET p.Ala883Phe (p.A883F) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Ala883Phe (p.A883F) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, 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.Ser904Cys (p.S904C) ( ENST00000615310.5, ENST00000355710.8, ENST00000713926.1, ENST00000340058.6 )
RET p.Ser904Phe (p.S904F) ( ENST00000355710.8, ENST00000713926.1, ENST00000340058.6, ENST00000615310.5 )
RET p.Met918Thr (p.M918T) ( ENST00000340058.6, ENST00000713926.1, ENST00000355710.8, ENST00000615310.5 )
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.Ser904Cys (p.S904C) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Ser904Phe (p.S904F) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Met918Thr (p.M918T) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
Associated Disease
multiple endocrine neoplasia type 2B
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.591974059078683
Year of publication
NA
Drugs