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
- Medullary carcinoma of thyroid
- Source Database
- DisGeNET
- Description
- RET mutation analysis confirmed an E768D mutation in exon 13 in 8 family members, 3 affected with medullary thyroid cancer alone while the other 5 were detected to be mutation carriers.
- Pubmed
- 16736292
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.32
- Year of publication
- 2006
Drugs