Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Glu768= (p.E768=)
(
ENST00000615310.5,
ENST00000355710.8,
ENST00000713926.1,
ENST00000340058.6 )
RET p.Glu768Asp (p.E768D) ( ENST00000340058.6, ENST00000713926.1, ENST00000355710.8, ENST00000615310.5 )
RET p.Glu768Asp (p.E768D) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Glu768= (p.E768=) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Glu768Asp (p.E768D) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Glu768Asp (p.E768D) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- familial medullary thyroid carcinoma
- Source Database
- DisGeNET
- Description
- The RET mutation E768D confers a late-onset familial medullary thyroid carcinoma -- only phenotype with incomplete penetrance: implications for screening and management of carrier status.
- Pubmed
- 16736292
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.521802048300367
- Year of publication
- 2006
Drugs