Annotation Detail
Information
- Associated Genes
- TSC2
- Associated Variants
-
TSC2 p.Arg905Gln (p.R905Q)
(
ENST00000568454.6,
ENST00000219476.9,
ENST00000350773.9,
ENST00000382538.10,
ENST00000401874.7,
ENST00000439673.6,
ENST00000642206.2,
ENST00000642365.2,
ENST00000642561.1,
ENST00000642797.1,
ENST00000642936.1,
ENST00000643088.1,
ENST00000643946.1,
ENST00000644043.1,
ENST00000644329.1,
ENST00000644335.1,
ENST00000645186.2,
ENST00000646388.1 )
TSC2 p.Arg905Gln (p.R905Q) ( ENST00000219476.9, ENST00000350773.9, ENST00000382538.10, ENST00000401874.7, ENST00000439673.6, ENST00000568454.6, ENST00000642206.2, ENST00000642365.2, ENST00000642561.1, ENST00000642797.1, ENST00000642936.1, ENST00000643088.1, ENST00000643946.1, ENST00000644043.1, ENST00000644329.1, ENST00000644335.1, ENST00000645186.2, ENST00000646388.1 ) - Associated Disease
- tuberous sclerosis
- Source Database
- DisGeNET
- Description
- Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
- Pubmed
- 17120248
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.4938153829769
- Year of publication
- 2006
Drugs