Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Tyr791Phe (p.Y791F)
(
ENST00000355710.8,
ENST00000615310.5,
ENST00000340058.6,
ENST00000713926.1 )
RET p.Tyr791Phe (p.Y791F) ( ENST00000615310.5, ENST00000713926.1, ENST00000340058.6, ENST00000355710.8 ) - Associated Disease
- Medullary carcinoma of thyroid
- Source Database
- DisGeNET
- Description
- We previously identified a four-generation family with medullary thyroid cancer (MTC) and a germline p.Y791F RET mutation whose cancer lacked a strong genotype-phenotype correlation.
- Pubmed
- 23723040
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.32
- Year of publication
- 2014
Drugs