Annotation Detail
Information
- Associated Genes
- GBA1
- Associated Variants
-
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.Val230Gly (p.V230G) ( ENST00000327247.9, ENST00000428024.3, ENST00000368373.8, ENST00000427500.7 )
GBA1 p.Val230Ala (p.V230A) ( ENST00000368373.8, ENST00000427500.7, ENST00000428024.3, ENST00000327247.9 )
GBA1 p.Val230Glu (p.V230E) ( ENST00000327247.9, ENST00000428024.3, ENST00000427500.7, ENST00000368373.8 )
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.Val230Gly (p.V230G) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Val230Ala (p.V230A) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Val230Glu (p.V230E) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 ) - Associated Disease
- Gaucher Disease, Type 1
- Source Database
- DisGeNET
- Description
- A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online.
- Pubmed
- 10206680
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.444885953697445
- Year of publication
- 1998
Drugs