Annotation Detail
Information
- Associated Genes
- TGFB1
- Associated Variants
-
TGFB1 p.Cys225Arg (p.C225R)
(
ENST00000221930.6,
ENST00000600196.2,
ENST00000677934.1 )
TGFB1 p.Cys223Gly (p.C223G) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1 )
TGFB1 p.Cys223Arg (p.C223R) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1 )
TGFB1 p.Cys223Ser (p.C223S) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1 )
TGFB1 p.Arg218His (p.R218H) ( ENST00000600196.2, ENST00000221930.6, ENST00000677934.1 )
TGFB1 p.Arg218Cys (p.R218C) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1 )
TGFB1 p.Tyr81His (p.Y81H) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1, ENST00000539627.5 )
TGFB1 p.Pro10Leu (p.P10L) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1, ENST00000539627.5 )
TGFB1 p.Pro10Arg (p.P10R) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1, ENST00000539627.5 )
TGFB1 p.Cys225Arg (p.C225R) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1 )
TGFB1 p.Cys223Gly (p.C223G) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1 )
TGFB1 p.Cys223Arg (p.C223R) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1 )
TGFB1 p.Cys223Ser (p.C223S) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1 )
TGFB1 p.Arg218His (p.R218H) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1 )
TGFB1 p.Arg218Cys (p.R218C) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1 )
TGFB1 p.Tyr81His (p.Y81H) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1, ENST00000539627.5 )
TGFB1 p.Pro10Leu (p.P10L) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1, ENST00000539627.5 )
TGFB1 p.Pro10Arg (p.P10R) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1, ENST00000539627.5 ) - Associated Disease
- Camurati-Engelmann Syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.489977335918515
- Year of publication
- NA
Drugs