Annotation Detail
Information
- Associated Genes
- GLB1
- Associated Variants
-
GLB1 p.Arg590Cys (p.R590C)
(
ENST00000307363.10,
ENST00000307377.12,
ENST00000399402.7 )
GLB1 p.Arg590Cys (p.R590C) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 ) - Associated Disease
- Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis
- Source Database
- ClinVar
- Description
- NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) AND multiple conditions
- ClinVar Allele ID
- 191759
- ClinVar RefSeq Alternation Syntax
- NM_001135602.3:c.1375C>T
- ClinVar RefSeq Alternation Syntax
- NM_001317040.2:c.1912C>T
- ClinVar RefSeq Alternation Syntax
- NM_001079811.3:c.1678C>T
- ClinVar RefSeq Alternation Syntax
- NM_001393580.1:c.1734+16745C>T
- ClinVar RefSeq Alternation Syntax
- NM_000404.4:c.1768C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-12-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000703485
- ClinVar Disease
- Mucopolysaccharidosis, MPS-IV-B
- ClinVar Disease
- GM1 gangliosidosis
- Observed Origin Sample
- germline
Drugs