Annotation Detail
Information
- Associated Genes
- GBA1 LOC106627981
- Associated Variants
-
GBA1 p.Arg296Gln (p.R296Q)
(
ENST00000327247.9,
ENST00000428024.3,
ENST00000368373.8,
ENST00000427500.7 )
GBA1 p.Arg296Gln (p.R296Q) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 ) - Associated Disease
- Gaucher disease perinatal lethal
- Source Database
- ClinVar
- Description
- NM_000157.4(GBA1):c.887G>A (p.Arg296Gln) AND Gaucher disease perinatal lethal
- ClinVar Allele ID
- 19367
- ClinVar RefSeq Alternation Syntax
- NM_001005742.3:c.887G>A
- ClinVar RefSeq Alternation Syntax
- NM_000157.4:c.887G>A
- ClinVar RefSeq Alternation Syntax
- NM_001005741.3:c.887G>A
- ClinVar RefSeq Alternation Syntax
- NM_001171811.2:c.626G>A
- ClinVar RefSeq Alternation Syntax
- NM_001171812.2:c.740G>A
- 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/RCV000004573
- ClinVar Disease
- Gaucher disease perinatal lethal
- Observed Origin Sample
- germline
- Pubmed
- 10685993
Drugs