Annotation Detail
Information
- Associated Genes
- GBA1 LOC106627981
- Associated Variants
-
GBA1 p.Pro454Arg (p.P454R)
(
ENST00000327247.9,
ENST00000428024.3,
ENST00000368373.8,
ENST00000427500.7 )
GBA1 p.Pro454Arg (p.P454R) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 ) - Associated Disease
- Gaucher disease type II
- Source Database
- ClinVar
- Description
- NM_000157.4(GBA1):c.1361C>G (p.Pro454Arg) AND Gaucher disease type II
- ClinVar Allele ID
- 19328
- ClinVar RefSeq Alternation Syntax
- NM_001005741.3:c.1361C>G
- ClinVar RefSeq Alternation Syntax
- NM_001171812.2:c.1214C>G
- ClinVar RefSeq Alternation Syntax
- NM_000157.4:c.1361C>G
- ClinVar RefSeq Alternation Syntax
- NM_001005742.3:c.1361C>G
- ClinVar RefSeq Alternation Syntax
- NM_001171811.2:c.1100C>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2007-11-16
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000004514
- ClinVar Disease
- Gaucher disease type II
- Observed Origin Sample
- germline
- Pubmed
- 18022370
- Pubmed
- 2464926
Drugs