Annotation Detail
Information
- Associated Genes
- GBA1 LOC106627981
- Associated Variants
-
GBA1 p.Val499= (p.V499=)
(
ENST00000327247.9,
ENST00000428024.3,
ENST00000368373.8,
ENST00000427500.7 )
GBA1 p.Ala495Pro (p.A495P) ( ENST00000368373.8, ENST00000427500.7, ENST00000327247.9, ENST00000428024.3 )
GBA1 p.Leu483Pro (p.L483P) ( ENST00000327247.9, ENST00000427500.7, ENST00000368373.8, ENST00000428024.3 )
GBA1 p.Val499= (p.V499=) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Ala495Pro (p.A495P) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Leu483Pro (p.L483P) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 ) - Associated Disease
- Gaucher disease type I
- Source Database
- ClinVar
- Description
- NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C] AND Gaucher disease type I
- ClinVar Allele ID
- 38384
- ClinVar Allele ID
- 38385
- ClinVar Allele ID
- 19327
- ClinVar RefSeq Alternation Syntax
- NM_000157.4:c.1448T>C
- ClinVar RefSeq Alternation Syntax
- NM_001171811.2:c.1222G>C
- ClinVar RefSeq Alternation Syntax
- NM_001005742.3:c.1483G>C
- ClinVar RefSeq Alternation Syntax
- NM_001005742.3:c.1448T>C
- ClinVar RefSeq Alternation Syntax
- NM_001005741.3:c.1483G>C
- ClinVar RefSeq Alternation Syntax
- NM_001171812.2:c.1350G>C
- ClinVar RefSeq Alternation Syntax
- NM_001005741.3:c.1448T>C
- ClinVar RefSeq Alternation Syntax
- NM_001171812.2:c.1301T>C
- ClinVar RefSeq Alternation Syntax
- NM_001005741.3:c.1497G>C
- ClinVar RefSeq Alternation Syntax
- NM_001005742.3:c.1497G>C
- ClinVar RefSeq Alternation Syntax
- NM_000157.4:c.1497G>C
- ClinVar RefSeq Alternation Syntax
- NM_001171812.2:c.1336G>C
- ClinVar RefSeq Alternation Syntax
- NM_001171811.2:c.1187T>C
- ClinVar RefSeq Alternation Syntax
- NM_001171811.2:c.1236G>C
- ClinVar RefSeq Alternation Syntax
- NM_000157.4:c.1483G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2000-03-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000004533
- ClinVar Disease
- Gaucher disease type I
- Observed Origin Sample
- germline
- Pubmed
- 8929950
- Pubmed
- 1972019
- Pubmed
- 1899336
- Pubmed
- 1437405
- Pubmed
- 10685993
- Pubmed
- 8118460
- Pubmed
- 7857677
- Pubmed
- 1594045
Drugs