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
- Medullary carcinoma of thyroid
- Source Database
- DisGeNET
- Description
- The other two patients are members of a large multigenerational family affected with familial MTC due to a germline mutation of the RET gene (Ala891Ser).
- Pubmed
- 15947103
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.32
- Year of publication
- 2005
Drugs