Annotation Detail

Information
Associated Genes
RET
Associated Variants
RET p.Ser891Ala (p.S891A) ( ENST00000355710.8, ENST00000340058.6, ENST00000615310.5, ENST00000713926.1 )
RET p.Ser891Ala (p.S891A) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
Associated Disease
Thyroid Neoplasm
Source Database
DisGeNET
Description
Nevertheless, an extensive molecular analysis that included all codons was prompted by the diagnosis of thyroid neoplasm in a patient's sister, and identified the rare intracellular RET p.Ser891Ala mutation.
Pubmed
23295303
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.258274259325373
Year of publication
2012
Drugs