Annotation Detail
Information
- Associated Genes
- GLB1
- Associated Variants
-
GLB1 p.Tyr316Cys (p.Y316C)
(
ENST00000307377.12,
ENST00000399402.7,
ENST00000307363.10 )
GLB1 p.Tyr316Cys (p.Y316C) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 ) - Associated Disease
- Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis GM1 gangliosidosis type 2
- Source Database
- ClinVar
- Description
- NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys) AND multiple conditions
- ClinVar Allele ID
- 15968
- ClinVar RefSeq Alternation Syntax
- NM_001317040.2:c.1091A>G
- ClinVar RefSeq Alternation Syntax
- NM_000404.4:c.947A>G
- ClinVar RefSeq Alternation Syntax
- NM_001079811.3:c.857A>G
- ClinVar RefSeq Alternation Syntax
- NM_001135602.3:c.554A>G
- ClinVar RefSeq Alternation Syntax
- NM_001393580.1:c.947A>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2018-03-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000673295
- 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