Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Val804Met (p.V804M)
(
ENST00000713926.1,
ENST00000340058.6,
ENST00000355710.8,
ENST00000615310.5 )
RET p.Val804Leu (p.V804L) ( ENST00000340058.6, ENST00000713926.1, ENST00000355710.8, ENST00000615310.5 )
RET p.Val804Leu (p.V804L) ( ENST00000355710.8, ENST00000713926.1, ENST00000615310.5, ENST00000340058.6 )
RET p.Val804Met (p.V804M) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Val804Leu (p.V804L) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Val804Leu (p.V804L) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- familial medullary thyroid carcinoma
- Source Database
- DisGeNET
- Description
- Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG-->ATG) mutation.
- Pubmed
- 10876191
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.521802048300367
- Year of publication
- 2000
Drugs