Annotation Detail
Information
- Associated Genes
- GBA1 LOC106627981
- Associated Variants
-
GBA1 p.Leu422ProfsTer4 (p.L422Pfs*4)
(
ENST00000368373.8,
ENST00000427500.7,
ENST00000428024.3,
ENST00000327247.9 )
GBA1 p.Leu422ProfsTer4 (p.L422Pfs*4) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 ) - Associated Disease
- Parkinson disease, late-onset Gaucher disease perinatal lethal Gaucher disease type I Lewy body dementia Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type II
- Source Database
- ClinVar
- Description
- NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) AND multiple conditions
- ClinVar Allele ID
- 190774
- ClinVar RefSeq Alternation Syntax
- NM_000157.4:c.1265_1319del
- ClinVar RefSeq Alternation Syntax
- NM_001005741.3:c.1265_1319del
- ClinVar RefSeq Alternation Syntax
- NM_001005742.3:c.1265_1319del
- ClinVar RefSeq Alternation Syntax
- NM_001171812.2:c.1118_1172del
- ClinVar RefSeq Alternation Syntax
- NM_001171811.2:c.1004_1058del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-12-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002500459
- ClinVar Disease
- Gaucher disease perinatal lethal
- ClinVar Disease
- Gaucher disease type I
- ClinVar Disease
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
- ClinVar Disease
- Lewy body dementia
- ClinVar Disease
- Gaucher disease type III
- ClinVar Disease
- Parkinson disease, late-onset
- ClinVar Disease
- Gaucher disease type II
- Observed Origin Sample
- unknown
Drugs