Annotation Detail
Information
- Associated Genes
- NTRK1
- Associated Variants
-
NTRK1 p.Val321Met (p.V321M)
(
ENST00000674537.2,
ENST00000524377.7,
ENST00000368196.7,
ENST00000358660.3,
ENST00000392302.7 )
NTRK1 p.Val321Met (p.V321M) ( ENST00000358660.3, ENST00000368196.7, ENST00000392302.7, ENST00000524377.7, ENST00000674537.2 ) - Associated Disease
- multiple endocrine neoplasia type 2A
- Source Database
- DisGeNET
- Description
- We unexpectedly discovered that the proband's daughter with MEN 2A-related MTC presented a novel p.C634Y/V292M/R67H/R982C compound mutation, due to the involvement of p.C634Y in the proband with MEN 2A and p.V292M/R67H/R982C in the proband's husband with FMTC.
- Pubmed
- 21655256
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00325730246496364
- Year of publication
- 2011
Drugs