Annotation Detail
Information
- Associated Genes
- GBA1
- Associated Variants
-
GBA1 p.Leu422ProfsTer4 (p.L422Pfs*4)
(
ENST00000368373.8,
ENST00000427500.7,
ENST00000428024.3,
ENST00000327247.9 )
GBA1 p.Pro178LeufsTer22 (p.P178Lfs*22) ( ENST00000428024.3, ENST00000327247.9, ENST00000368373.8, ENST00000427500.7 )
GBA1 p.Leu422ProfsTer4 (p.L422Pfs*4) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Pro178LeufsTer22 (p.P178Lfs*22) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
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.Asp448His (p.D448H) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Val437Phe (p.V437F) ( ENST00000428024.3, ENST00000327247.9, ENST00000427500.7, ENST00000368373.8 )
GBA1 p.Arg398Ter (p.R398*) ( ENST00000427500.7, ENST00000368373.8, ENST00000327247.9, ENST00000428024.3 )
GBA1 p.His350Arg (p.H350R) ( ENST00000368373.8, ENST00000427500.7, ENST00000327247.9, ENST00000428024.3 )
GBA1 p.Arg296Gln (p.R296Q) ( ENST00000327247.9, ENST00000428024.3, ENST00000368373.8, ENST00000427500.7 )
GBA1 p.Phe290Leu (p.F290L) ( 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.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.Asp448His (p.D448H) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Val437Phe (p.V437F) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Arg398Ter (p.R398*) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.His350Arg (p.H350R) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Arg296Gln (p.R296Q) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Phe290Leu (p.F290L) ( 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 ) - Associated Disease
- GAUCHER DISEASE, PERINATAL LETHAL
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs