Annotation Detail
Information
- Associated Genes
- GLB1
- Associated Variants
-
GLB1 p.Arg148Ser (p.R148S)
(
ENST00000307363.10,
ENST00000307377.12,
ENST00000399402.7 )
GLB1 p.Arg148Ser (p.R148S) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 ) - Associated Disease
- Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3
- Source Database
- ClinVar
- Description
- NM_000404.4(GLB1):c.442C>A (p.Arg148Ser) AND multiple conditions
- ClinVar Allele ID
- 543207
- ClinVar RefSeq Alternation Syntax
- NM_001393580.1:c.442C>A
- ClinVar RefSeq Alternation Syntax
- NM_001079811.3:c.352C>A
- ClinVar RefSeq Alternation Syntax
- NM_001135602.3:c.246-2688C>A
- ClinVar RefSeq Alternation Syntax
- NM_001317040.2:c.586C>A
- ClinVar RefSeq Alternation Syntax
- NM_000404.4:c.442C>A
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2021-07-30
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000666897
- ClinVar Disease
- GM1 gangliosidosis type 3
- ClinVar Disease
- GM1 gangliosidosis type 2
- ClinVar Disease
- Infantile GM1 gangliosidosis
- ClinVar Disease
- Mucopolysaccharidosis, MPS-IV-B
- Observed Origin Sample
- unknown
Drugs