Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
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.Leu790Phe (p.L790F) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Leu790Phe (p.L790F) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- familial medullary thyroid carcinoma
- Source Database
- DisGeNET
- Description
- This case report describes three generations of a family with familial medullary thyroid cancer (RET gene mutation L790F).
- Pubmed
- 22965292
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.521802048300367
- Year of publication
- 2012
Drugs