Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Val292Met (p.V292M)
(
ENST00000713926.1,
ENST00000355710.8,
ENST00000340058.6,
ENST00000615310.5 )
RET p.Val292Met (p.V292M) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- Medullary carcinoma of thyroid
- Source Database
- DisGeNET
- Description
- A novel de novo germ-line V292M mutation in the extracellular region of RET in a patient with phaeochromocytoma and medullary thyroid carcinoma: functional characterization.
- Pubmed
- 20039896
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.32
- Year of publication
- 2010
Drugs