Annotation Detail
Information
- Associated Genes
- GBA1 LOC106627981
- Associated Variants
-
GBA1 p.Val391Leu (p.V391L)
(
ENST00000368373.8,
ENST00000427500.7,
ENST00000327247.9,
ENST00000428024.3 )
GBA1 p.Val391Leu (p.V391L) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 ) - Associated Disease
- Gaucher disease
- Source Database
- ClinVar
- Description
- NM_000157.4(GBA1):c.1171G>C (p.Val391Leu) AND Gaucher disease
- ClinVar Allele ID
- 99353
- ClinVar RefSeq Alternation Syntax
- NM_001171811.2:c.910G>C
- ClinVar RefSeq Alternation Syntax
- NM_000157.4:c.1171G>C
- ClinVar RefSeq Alternation Syntax
- NM_001171812.2:c.1024G>C
- ClinVar RefSeq Alternation Syntax
- NM_001005742.3:c.1171G>C
- ClinVar RefSeq Alternation Syntax
- NM_001005741.3:c.1171G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-04-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000781412
- ClinVar Disease
- Gaucher disease
- Observed Origin Sample
- germline
Drugs