Annotation Detail
Information
- Associated Genes
- GBA1
- Associated Variants
-
GBA1 p.Leu422ProfsTer4 (p.L422Pfs*4)
(
ENST00000368373.8,
ENST00000427500.7,
ENST00000428024.3,
ENST00000327247.9 )
GBA1 p.Leu422ProfsTer4 (p.L422Pfs*4) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Arg535His (p.R535H) ( ENST00000427500.7, ENST00000368373.8, ENST00000428024.3, ENST00000327247.9 )
GBA1 p.Arg502His (p.R502H) ( ENST00000428024.3, ENST00000327247.9, ENST00000368373.8, ENST00000427500.7 )
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.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.Asp448Val (p.D448V) ( ENST00000368373.8, ENST00000427500.7, ENST00000428024.3, ENST00000327247.9 )
GBA1 p.Asp448His (p.D448H) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Val433Leu (p.V433L) ( ENST00000428024.3, ENST00000327247.9, ENST00000368373.8, ENST00000427500.7 )
GBA1 p.Gly416Ser (p.G416S) ( ENST00000327247.9, ENST00000428024.3, ENST00000427500.7, ENST00000368373.8 )
GBA1 p.Asn409Ser (p.N409S) ( ENST00000427500.7, ENST00000368373.8, ENST00000428024.3, ENST00000327247.9 )
GBA1 p.Asn409Thr (p.N409T) ( ENST00000428024.3, ENST00000327247.9, ENST00000427500.7, ENST00000368373.8 )
GBA1 p.Arg296Gln (p.R296Q) ( ENST00000327247.9, ENST00000428024.3, ENST00000368373.8, ENST00000427500.7 )
GBA1 p.Phe252Ile (p.F252I) ( ENST00000368373.8, ENST00000427500.7, ENST00000428024.3, ENST00000327247.9 )
GBA1 p.Ser235Pro (p.S235P) ( ENST00000427500.7, ENST00000368373.8, ENST00000428024.3, ENST00000327247.9 )
GBA1 p.Asn227Ser (p.N227S) ( ENST00000368373.8, ENST00000427500.7, ENST00000428024.3, ENST00000327247.9 )
GBA1 p.Arg170Leu (p.R170L) ( ENST00000428024.3, ENST00000327247.9, ENST00000427500.7, ENST00000368373.8 )
GBA1 p.Arg170His (p.R170H) ( ENST00000428024.3, ENST00000327247.9, ENST00000427500.7, ENST00000368373.8 )
GBA1 p.Arg159Pro (p.R159P) ( ENST00000327247.9, ENST00000428024.3, ENST00000368373.8, ENST00000427500.7 )
GBA1 p.Arg159Gln (p.R159Q) ( ENST00000427500.7, ENST00000368373.8, ENST00000428024.3, ENST00000327247.9 )
GBA1 p.Arg159Trp (p.R159W) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 c.27+1G>A ( ENST00000368373.8, ENST00000427500.7, ENST00000327247.9, ENST00000428024.3 )
GBA1 p.Arg535His (p.R535H) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Arg502His (p.R502H) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, 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.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.Asp448Val (p.D448V) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Asp448His (p.D448H) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Val433Leu (p.V433L) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Gly416Ser (p.G416S) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Asn409Ser (p.N409S) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Asn409Thr (p.N409T) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Arg296Gln (p.R296Q) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Phe252Ile (p.F252I) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Ser235Pro (p.S235P) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Asn227Ser (p.N227S) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Arg170Leu (p.R170L) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Arg170His (p.R170H) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Arg159Pro (p.R159P) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Arg159Gln (p.R159Q) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Arg159Trp (p.R159W) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 c.27+1G>A ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Gln32ArgfsTer15 (p.Q32Rfs*15)
GBA1 p.Gln32ArgfsTer15 (p.Q32Rfs*15) - Associated Disease
- Gaucher disease
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.354558160887576
- Year of publication
- NA
Drugs