Annotation Detail
Information
- Associated Genes
- GBA1
- Associated Variants
-
GBA1 p.Arg502Cys (p.R502C)
(
ENST00000368373.8,
ENST00000327247.9,
ENST00000427500.7,
ENST00000428024.3 )
GBA1 p.Arg502Ser (p.R502S) ( ENST00000327247.9, ENST00000428024.3, ENST00000427500.7, ENST00000368373.8 )
GBA1 p.Val499= (p.V499=) ( ENST00000327247.9, ENST00000428024.3, ENST00000368373.8, ENST00000427500.7 )
GBA1 p.Ala495Pro (p.A495P) ( ENST00000368373.8, ENST00000427500.7, ENST00000327247.9, ENST00000428024.3 )
GBA1 p.Leu483Arg (p.L483R) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Leu483Pro (p.L483P) ( ENST00000327247.9, ENST00000427500.7, ENST00000368373.8, ENST00000428024.3 )
GBA1 p.Pro454Arg (p.P454R) ( ENST00000327247.9, ENST00000428024.3, ENST00000368373.8, ENST00000427500.7 )
GBA1 p.Asp448His (p.D448H) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Cys381Gly (p.C381G) ( ENST00000428024.3, ENST00000327247.9, ENST00000427500.7, ENST00000368373.8 )
GBA1 p.Gly364Arg (p.G364R) ( ENST00000368373.8, ENST00000427500.7, ENST00000327247.9, ENST00000428024.3 )
GBA1 p.Thr362Ile (p.T362I) ( ENST00000427500.7, ENST00000368373.8, ENST00000327247.9, ENST00000428024.3 )
GBA1 p.His294Gln (p.H294Q) ( ENST00000327247.9, ENST00000428024.3, ENST00000427500.7, ENST00000368373.8 )
GBA1 p.Phe252Ile (p.F252I) ( ENST00000368373.8, ENST00000427500.7, ENST00000428024.3, ENST00000327247.9 )
GBA1 c.27+1G>A ( ENST00000368373.8, ENST00000427500.7, ENST00000327247.9, ENST00000428024.3 )
GBA1 p.Arg502Cys (p.R502C) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Arg502Ser (p.R502S) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Val499= (p.V499=) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Ala495Pro (p.A495P) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Leu483Arg (p.L483R) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Leu483Pro (p.L483P) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Pro454Arg (p.P454R) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Asp448His (p.D448H) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Cys381Gly (p.C381G) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Gly364Arg (p.G364R) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Thr362Ile (p.T362I) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.His294Gln (p.H294Q) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Phe252Ile (p.F252I) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 c.27+1G>A ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 ) - Associated Disease
- Gaucher Disease, Type 2 (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.440814325616241
- Year of publication
- NA
Drugs