Annotation Detail
Information
- Associated Genes
- GBA1 LOC106627981
- Associated Variants
-
GBA1 p.Leu483Pro (p.L483P)
(
ENST00000327247.9,
ENST00000427500.7,
ENST00000368373.8,
ENST00000428024.3 )
GBA1 p.Leu483Pro (p.L483P) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 ) - Associated Disease
- Gaucher disease
- Source Database
- ClinVar
- Description
- NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) AND Gaucher disease
- ClinVar Allele ID
- 19327
- ClinVar RefSeq Alternation Syntax
- NM_000157.4:c.1448T>C
- ClinVar RefSeq Alternation Syntax
- NM_001171812.2:c.1301T>C
- ClinVar RefSeq Alternation Syntax
- NM_001005742.3:c.1448T>C
- ClinVar RefSeq Alternation Syntax
- NM_001005741.3:c.1448T>C
- ClinVar RefSeq Alternation Syntax
- NM_001171811.2:c.1187T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-03-05
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000020150
- ClinVar Disease
- Gaucher disease
- Observed Origin Sample
- germline
Drugs