Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET c.73+9277T>C
(
ENST00000355710.8,
ENST00000684216.2,
ENST00000615310.5,
ENST00000683278.2,
ENST00000640619.2,
ENST00000340058.6,
ENST00000638465.2,
ENST00000713926.1 )
RET p.Ser32Leu (p.S32L) ( ENST00000638465.2, ENST00000683278.2, ENST00000640619.2, ENST00000340058.6, ENST00000713926.1, ENST00000355710.8, ENST00000684216.2, ENST00000615310.5 )
RET p.Ala45= (p.A45=) ( ENST00000684216.2, ENST00000355710.8, ENST00000713926.1, ENST00000640619.2, ENST00000683278.2, ENST00000340058.6, ENST00000638465.2, ENST00000615310.5 )
RET p.Pro64Leu (p.P64L) ( ENST00000684216.2, ENST00000615310.5, ENST00000355710.8, ENST00000713926.1, ENST00000638465.2, ENST00000683278.2, ENST00000640619.2, ENST00000340058.6 )
RET p.Glu136Lys (p.E136K) ( ENST00000340058.6, ENST00000640619.2, ENST00000638465.2, ENST00000713926.1, ENST00000683278.2, ENST00000355710.8, ENST00000615310.5, ENST00000684216.2 )
RET p.Glu136Ter (p.E136*) ( ENST00000355710.8, ENST00000684216.2, ENST00000615310.5, ENST00000640619.2, ENST00000683278.2, ENST00000340058.6, ENST00000638465.2, ENST00000713926.1 )
RET p.Arg180Ter (p.R180*) ( ENST00000638465.2, ENST00000340058.6, ENST00000683278.2, ENST00000640619.2, ENST00000713926.1, ENST00000355710.8, ENST00000684216.2, ENST00000615310.5 )
RET p.Arg231His (p.R231H) ( ENST00000713926.1, ENST00000340058.6, ENST00000615310.5, ENST00000355710.8 )
RET p.Arg313Gln (p.R313Q) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Arg330Gln (p.R330Q) ( ENST00000713926.1, ENST00000355710.8, ENST00000615310.5, ENST00000340058.6 )
RET p.Phe393Leu (p.F393L) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET c.1880-2A>G ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Ile647= (p.I647=) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Ser765Pro (p.S765P) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Arg897Gln (p.R897Q) ( ENST00000340058.6, ENST00000713926.1, ENST00000355710.8, ENST00000615310.5 )
RET p.Arg972Gly (p.R972G) ( ENST00000713926.1, ENST00000615310.5, ENST00000355710.8, ENST00000340058.6 )
RET p.Arg982Cys (p.R982C) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET c.73+9277T>C ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000638465.2, ENST00000640619.2, ENST00000683278.2, ENST00000684216.2, ENST00000713926.1 )
RET p.Ser32Leu (p.S32L) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000638465.2, ENST00000640619.2, ENST00000683278.2, ENST00000684216.2, ENST00000713926.1 )
RET p.Ala45= (p.A45=) ( ENST00000713926.1, ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000638465.2, ENST00000640619.2, ENST00000683278.2, ENST00000684216.2 )
RET p.Pro64Leu (p.P64L) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000638465.2, ENST00000640619.2, ENST00000683278.2, ENST00000684216.2, ENST00000713926.1 )
RET p.Glu136Lys (p.E136K) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000638465.2, ENST00000640619.2, ENST00000683278.2, ENST00000684216.2, ENST00000713926.1 )
RET p.Glu136Ter (p.E136*) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000638465.2, ENST00000640619.2, ENST00000683278.2, ENST00000684216.2, ENST00000713926.1 )
RET p.Arg180Ter (p.R180*) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000638465.2, ENST00000640619.2, ENST00000683278.2, ENST00000684216.2, ENST00000713926.1 )
RET p.Arg231His (p.R231H) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Arg313Gln (p.R313Q) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Arg330Gln (p.R330Q) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Phe393Leu (p.F393L) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET c.1880-2A>G ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Ile647= (p.I647=) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Ser765Pro (p.S765P) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Arg897Gln (p.R897Q) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Arg972Gly (p.R972G) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Arg982Cys (p.R982C) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- Hirschsprung disease 1
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.15610176898668
- Year of publication
- NA
Drugs