Annotation Detail
Information
- Associated Genes
- GBA1 LOC106627981
- Associated Variants
-
GBA1 p.Ala348Gly (p.A348G)
(
ENST00000327247.9,
ENST00000428024.3,
ENST00000368373.8,
ENST00000427500.7 )
GBA1 p.Ala348Gly (p.A348G) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 ) - Associated Disease
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type II Lewy body dementia Gaucher disease type I Gaucher disease type III Parkinson disease, late-onset Gaucher disease perinatal lethal
- Source Database
- ClinVar
- Description
- NM_000157.4(GBA1):c.1043C>G (p.Ala348Gly) AND multiple conditions
- ClinVar Allele ID
- 1297997
- ClinVar RefSeq Alternation Syntax
- NM_001005741.3:c.1043C>G
- ClinVar RefSeq Alternation Syntax
- NM_001171811.2:c.782C>G
- ClinVar RefSeq Alternation Syntax
- NM_000157.4:c.1043C>G
- ClinVar RefSeq Alternation Syntax
- NM_001171812.2:c.896C>G
- ClinVar RefSeq Alternation Syntax
- NM_001005742.3:c.1043C>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-03-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002489761
- 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