Annotation Detail
Information
- Associated Genes
- GLB1
- Associated Variants
-
GLB1 p.Arg68Trp (p.R68W)
(
ENST00000307363.10,
ENST00000307377.12,
ENST00000399402.7 )
GLB1 p.Arg68Trp (p.R68W) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 ) - Associated Disease
- GM1 gangliosidosis type 2
- Source Database
- ClinVar
- Description
- NM_000404.4(GLB1):c.202C>T (p.Arg68Trp) AND GM1 gangliosidosis type 2
- ClinVar Allele ID
- 15983
- ClinVar RefSeq Alternation Syntax
- NM_001393580.1:c.202C>T
- ClinVar RefSeq Alternation Syntax
- NM_001135602.3:c.202C>T
- ClinVar RefSeq Alternation Syntax
- NM_001079811.3:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001317040.2:c.346C>T
- ClinVar RefSeq Alternation Syntax
- NM_000404.4:c.202C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2003-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000993
- ClinVar Disease
- GM1 gangliosidosis type 2
- Observed Origin Sample
- germline
- Pubmed
- 12644936
Drugs