Annotation Detail
Information
- Associated Genes
- GLB1
- Associated Variants
-
GLB1 p.Arg201His (p.R201H)
(
ENST00000307363.10,
ENST00000307377.12,
ENST00000399402.7 )
GLB1 p.Arg201His (p.R201H) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 ) - Associated Disease
- Infantile GM1 gangliosidosis
- Source Database
- ClinVar
- Description
- NM_000404.4(GLB1):c.602G>A (p.Arg201His) AND Infantile GM1 gangliosidosis
- ClinVar Allele ID
- 195238
- ClinVar RefSeq Alternation Syntax
- NM_001079811.3:c.512G>A
- ClinVar RefSeq Alternation Syntax
- NM_001317040.2:c.746G>A
- ClinVar RefSeq Alternation Syntax
- NM_001393580.1:c.602G>A
- ClinVar RefSeq Alternation Syntax
- NM_001135602.3:c.341-4671G>A
- ClinVar RefSeq Alternation Syntax
- NM_000404.4:c.602G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-03-29
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002286710
- ClinVar Disease
- Infantile GM1 gangliosidosis
- Observed Origin Sample
- germline
- Observed Origin Sample
- paternal
Drugs