Annotation Detail
Information
- Associated Genes
- GLB1
- Associated Variants
-
GLB1 p.Arg482His (p.R482H)
(
ENST00000307363.10,
ENST00000307377.12,
ENST00000399402.7 )
GLB1 p.Arg482His (p.R482H) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000404.4(GLB1):c.1445G>A (p.Arg482His) AND not provided
- ClinVar Allele ID
- 15971
- ClinVar RefSeq Alternation Syntax
- NM_001393580.1:c.1445G>A
- ClinVar RefSeq Alternation Syntax
- NM_001079811.3:c.1355G>A
- ClinVar RefSeq Alternation Syntax
- NM_001317040.2:c.1589G>A
- ClinVar RefSeq Alternation Syntax
- NM_000404.4:c.1445G>A
- ClinVar RefSeq Alternation Syntax
- NM_001135602.3:c.1052G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-03-07
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000174679
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs