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.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.Asp482Asn (p.D482N) ( ENST00000427500.7, ENST00000368373.8, ENST00000428024.3, ENST00000327247.9 )
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.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.Asp482Asn (p.D482N) ( 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 ) - Associated Disease
- Parkinson disease, late-onset
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs