Annotation Detail
Information
- Associated Genes
- GLB1
- Associated Variants
-
GLB1 p.Arg201Cys (p.R201C)
(
ENST00000307377.12,
ENST00000307363.10,
ENST00000399402.7 )
GLB1 p.Arg201Cys (p.R201C) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 ) - Associated Disease
- GM1 gangliosidosis type 2
- Source Database
- ClinVar
- Description
- NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) AND GM1 gangliosidosis type 2
- ClinVar Allele ID
- 15964
- ClinVar RefSeq Alternation Syntax
- NM_001079811.3:c.511C>T
- ClinVar RefSeq Alternation Syntax
- NM_001317040.2:c.745C>T
- ClinVar RefSeq Alternation Syntax
- NM_001393580.1:c.601C>T
- ClinVar RefSeq Alternation Syntax
- NM_001135602.3:c.341-4672C>T
- ClinVar RefSeq Alternation Syntax
- NM_000404.4:c.601C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-01-20
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000973
- ClinVar Disease
- GM1 gangliosidosis type 2
- Observed Origin Sample
- germline
- Observed Origin Sample
- not applicable
- Observed Origin Sample
- maternal
- Observed Origin Sample
- unknown
- Pubmed
- 1909089
- Pubmed
- 1907800
- Pubmed
- 12644936
Drugs