Annotation Detail
Information
- Associated Genes
- GBA1 LOC106627981
- Associated Variants
-
GBA1 p.Phe255Tyr (p.F255Y)
(
ENST00000427500.7,
ENST00000368373.8,
ENST00000327247.9,
ENST00000428024.3 )
GBA1 p.Phe255Tyr (p.F255Y) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 ) - Associated Disease
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type I Gaucher disease type II Gaucher disease type III
- Source Database
- ClinVar
- Description
- NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr) AND multiple conditions
- ClinVar Allele ID
- 19337
- ClinVar RefSeq Alternation Syntax
- NM_001005742.3:c.764T>A
- ClinVar RefSeq Alternation Syntax
- NM_000157.4:c.764T>A
- ClinVar RefSeq Alternation Syntax
- NM_001171811.2:c.503T>A
- ClinVar RefSeq Alternation Syntax
- NM_001171812.2:c.617T>A
- ClinVar RefSeq Alternation Syntax
- NM_001005741.3:c.764T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001004127
- ClinVar Disease
- Gaucher disease type I
- ClinVar Disease
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
- ClinVar Disease
- Gaucher disease type III
- ClinVar Disease
- Gaucher disease type II
- Observed Origin Sample
- germline
Drugs