Annotation Detail
Information
- Associated Genes
- GBA1 LOC106627981
- Associated Variants
-
GBA1 p.Gly416Ser (p.G416S)
(
ENST00000327247.9,
ENST00000428024.3,
ENST00000427500.7,
ENST00000368373.8 )
GBA1 p.Gly416Ser (p.G416S) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 ) - Associated Disease
- Gaucher disease
- Source Database
- ClinVar
- Description
- NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser) AND Gaucher disease
- ClinVar Allele ID
- 19366
- ClinVar RefSeq Alternation Syntax
- NM_000157.4:c.1246G>A
- ClinVar RefSeq Alternation Syntax
- NM_001005742.3:c.1246G>A
- ClinVar RefSeq Alternation Syntax
- NM_001005741.3:c.1246G>A
- ClinVar RefSeq Alternation Syntax
- NM_001171811.2:c.985G>A
- ClinVar RefSeq Alternation Syntax
- NM_001171812.2:c.1099G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-01-22
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000055772
- ClinVar Disease
- Gaucher disease
- Observed Origin Sample
- germline
Drugs