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
- Infantile GM1 gangliosidosis
- Source Database
- ClinVar
- Description
- NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys) AND Infantile GM1 gangliosidosis
- 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
- Pathogenic
- Clinical Significance Last Update
- 1992-05-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000977
- ClinVar Disease
- Infantile GM1 gangliosidosis
- Observed Origin Sample
- germline
- Pubmed
- 1606711
- Pubmed
- 1907800
Drugs