Annotation Detail
Information
- Associated Genes
- GBA1 LOC106627981
- Associated Variants
-
GBA1 p.Asp448His (p.D448H)
(
ENST00000327247.9,
ENST00000368373.8,
ENST00000427500.7,
ENST00000428024.3 )
GBA1 p.His294Gln (p.H294Q) ( ENST00000327247.9, ENST00000428024.3, ENST00000427500.7, ENST00000368373.8 )
GBA1 p.Asp448His (p.D448H) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.His294Gln (p.H294Q) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 ) - Associated Disease
- Gaucher disease type III
- Source Database
- ClinVar
- Description
- NM_001005741.2(GBA1):c.[880T>G;1342G>C] AND Gaucher disease type III
- ClinVar Allele ID
- 19332
- ClinVar Allele ID
- 19373
- ClinVar RefSeq Alternation Syntax
- NM_001005741.3:c.1342G>C
- ClinVar RefSeq Alternation Syntax
- NM_001005742.3:c.1342G>C
- ClinVar RefSeq Alternation Syntax
- NM_001171811.2:c.1081G>C
- ClinVar RefSeq Alternation Syntax
- NM_001171812.2:c.1195G>C
- ClinVar RefSeq Alternation Syntax
- NM_001005741.3:c.882T>G
- ClinVar RefSeq Alternation Syntax
- NM_001005742.3:c.882T>G
- ClinVar RefSeq Alternation Syntax
- NM_000157.4:c.882T>G
- ClinVar RefSeq Alternation Syntax
- NM_001171812.2:c.735T>G
- ClinVar RefSeq Alternation Syntax
- NM_000157.4:c.1342G>C
- ClinVar RefSeq Alternation Syntax
- NM_001171811.2:c.621T>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2005-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000004581
- ClinVar Disease
- Gaucher disease type III
- Observed Origin Sample
- germline
- Pubmed
- 15690354
Drugs