Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Cys620Tyr (p.C620Y)
(
ENST00000713926.1,
ENST00000340058.6,
ENST00000615310.5,
ENST00000355710.8 )
RET p.Cys620Ser (p.C620S) ( ENST00000355710.8, ENST00000340058.6, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys620Phe (p.C620F) ( ENST00000713926.1, ENST00000340058.6, ENST00000615310.5, ENST00000355710.8 )
RET p.Cys620Tyr (p.C620Y) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys620Ser (p.C620S) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys620Phe (p.C620F) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- familial medullary thyroid carcinoma
- Source Database
- DisGeNET
- Description
- Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests.
- Pubmed
- 7915165
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.521802048300367
- Year of publication
- 1994
Drugs