Annotation Detail
Information
- Associated Genes
- NTRK1
- Associated Variants
-
RET p.Arg67His (p.R67H)
(
ENST00000340058.6,
ENST00000355710.8,
ENST00000615310.5,
ENST00000638465.2,
ENST00000640619.2,
ENST00000683278.2,
ENST00000684216.2,
ENST00000713926.1 )
RET p.Val292Met (p.V292M) ( ENST00000713926.1, ENST00000355710.8, ENST00000340058.6, ENST00000615310.5 )
RET p.Cys634Tyr (p.C634Y) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys634Ser (p.C634S) ( ENST00000615310.5, ENST00000355710.8, ENST00000713926.1, ENST00000340058.6 )
RET p.Cys634Phe (p.C634F) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Arg982Cys (p.R982C) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
NTRK1 p.Val321Met (p.V321M) ( ENST00000674537.2, ENST00000524377.7, ENST00000368196.7, ENST00000358660.3, ENST00000392302.7 )
RET p.Arg67His (p.R67H) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000638465.2, ENST00000640619.2, ENST00000683278.2, ENST00000684216.2, ENST00000713926.1 )
RET p.Val292Met (p.V292M) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys634Tyr (p.C634Y) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys634Ser (p.C634S) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys634Phe (p.C634F) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Arg982Cys (p.R982C) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
NTRK1 p.Val321Met (p.V321M) ( ENST00000358660.3, ENST00000368196.7, ENST00000392302.7, ENST00000524377.7, ENST00000674537.2 ) - Associated Disease
- familial medullary thyroid carcinoma
- Source Database
- DisGeNET
- Description
- The results confirmed the successful clinical utility of whole exome sequencing, and our data suggested that the p.C634Y/V292M/R67H/R982C mutation of RET exhibited a more aggressive clinical phenotype than p.C634Y or p.V292M/R67H/R982C, while p.V292M/R67H/R982C presented a relatively milder pathogenicity of MTC and likely predisposed to FMTC.
- Pubmed
- 21655256
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.361628651232482
- Year of publication
- 2011
Drugs