Annotation Detail
Information
- Associated Genes
- GLB1
- Associated Variants
-
GLB1 c.457+2T>C
(
ENST00000307363.10,
ENST00000307377.12,
ENST00000399402.7 )
GLB1 c.457+2T>C ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 ) - Associated Disease
- GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B
- Source Database
- ClinVar
- Description
- NM_000404.4(GLB1):c.457+2T>C AND multiple conditions
- ClinVar Allele ID
- 98815
- ClinVar RefSeq Alternation Syntax
- NM_000404.4:c.457+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001317040.2:c.601+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001393580.1:c.457+2T>C
- ClinVar RefSeq Alternation Syntax
- NM_001135602.3:c.246-2671T>C
- ClinVar RefSeq Alternation Syntax
- NM_001079811.3:c.367+2T>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-09-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003764757
- ClinVar Disease
- Mucopolysaccharidosis, MPS-IV-B
- ClinVar Disease
- GM1 gangliosidosis
- Observed Origin Sample
- germline
Drugs