Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Cys634Ser (p.C634S)
(
ENST00000340058.6,
ENST00000713926.1,
ENST00000355710.8,
ENST00000615310.5 )
RET p.Cys634Arg (p.C634R) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys634Gly (p.C634G) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys634Ser (p.C634S) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys634Arg (p.C634R) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys634Gly (p.C634G) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- multiple endocrine neoplasia type 2A
- Source Database
- DisGeNET
- Description
- A heterozygous mutation p.Cys634Arg in the RET gene was identified in 5 patients with MEN2A and one asymptomatic family member.
- Pubmed
- 23617071
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.613995490717024
- Year of publication
- 2013
Drugs