Annotation Detail
Information
- Associated Genes
- GBA1 LOC106627981
- Associated Variants
-
GBA1 p.Asp448His (p.D448H)
(
ENST00000327247.9,
ENST00000368373.8,
ENST00000427500.7,
ENST00000428024.3 )
GBA1 p.Asp448His (p.D448H) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 ) - Associated Disease
- Gaucher disease type II
- Source Database
- ClinVar
- Description
- NM_000157.4(GBA1):c.1342G>C (p.Asp448His) AND Gaucher disease type II
- Pubmed
- 2502917
- Pubmed
- 7475546
- Pubmed
- 7627184
- Pubmed
- 12838552
- ClinVar Allele ID
- 19332
- 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_000157.4:c.1342G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2016-04-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000004524
- ClinVar Disease
- Gaucher disease type II
- Observed Origin Sample
- germline
- Pubmed
- 8544197
- Pubmed
- 9040001
- Pubmed
- 11148530
- Pubmed
- 18586596
- Pubmed
- 8790604
- Pubmed
- 10636167
- Pubmed
- 1974409
Drugs