Annotation Detail
Information
- Associated Genes
- GBA1
- Associated Variants
-
GBA1 c.115+1G>A
(
ENST00000428024.3,
ENST00000368373.8,
ENST00000427500.7,
ENST00000327247.9 )
GBA1 c.115+1G>A ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 ) - Associated Disease
- Gaucher disease type I
- Source Database
- ClinVar
- Description
- NM_000157.4(GBA1):c.115+1G>A AND Gaucher disease type I
- ClinVar Allele ID
- 99352
- ClinVar RefSeq Alternation Syntax
- NM_000157.4:c.115+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001171811.2:c.-146-552G>A
- ClinVar RefSeq Alternation Syntax
- NM_001171812.2:c.115+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001005741.3:c.115+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001005742.3:c.115+1G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-12-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000177098
- ClinVar Disease
- Gaucher disease type I
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 1415223
- Pubmed
- 10649495
- Pubmed
- 1589760
Drugs