Annotation Detail
Information
- Associated Genes
- GBA1 LOC106627981
- Associated Variants
-
GBA1 p.Pro328Leu (p.P328L)
(
ENST00000327247.9,
ENST00000428024.3,
ENST00000368373.8,
ENST00000427500.7 )
GBA1 p.Pro328Leu (p.P328L) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 ) - Associated Disease
- Gaucher disease type I
- Source Database
- ClinVar
- Description
- NM_000157.4(GBA1):c.983C>T (p.Pro328Leu) AND Gaucher disease type I
- ClinVar Allele ID
- 19344
- ClinVar RefSeq Alternation Syntax
- NM_000157.4:c.983C>T
- ClinVar RefSeq Alternation Syntax
- NM_001005742.3:c.983C>T
- ClinVar RefSeq Alternation Syntax
- NM_001005741.3:c.983C>T
- ClinVar RefSeq Alternation Syntax
- NM_001171811.2:c.722C>T
- ClinVar RefSeq Alternation Syntax
- NM_001171812.2:c.836C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1992-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000004547
- ClinVar Disease
- Gaucher disease type I
- Observed Origin Sample
- germline
- Pubmed
- 1301953
Drugs