Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Tyr791Phe (p.Y791F)
(
ENST00000355710.8,
ENST00000615310.5,
ENST00000340058.6,
ENST00000713926.1 )
RET p.Pro1039Gln (p.P1039Q) ( ENST00000615310.5, ENST00000355710.8, ENST00000713926.1, ENST00000340058.6 )
RET p.Pro1039Leu (p.P1039L) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Tyr791Phe (p.Y791F) ( ENST00000615310.5, ENST00000713926.1, ENST00000340058.6, ENST00000355710.8 )
RET p.Pro1039Gln (p.P1039Q) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Pro1039Leu (p.P1039L) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- Hirschsprung Disease
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.528543720082936
- Year of publication
- NA
Drugs