Annotation Detail
Information
- Associated Genes
- GLB1
- Associated Variants
-
GLB1 p.Gly123Arg (p.G123R)
(
ENST00000399402.7,
ENST00000307377.12,
ENST00000307363.10 )
GLB1 p.Gly123Arg (p.G123R) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 ) - Associated Disease
- Infantile GM1 gangliosidosis
- Source Database
- ClinVar
- Description
- NM_000404.4(GLB1):c.367G>A (p.Gly123Arg) AND Infantile GM1 gangliosidosis
- ClinVar Allele ID
- 15967
- ClinVar RefSeq Alternation Syntax
- NM_000404.4:c.367G>A
- ClinVar RefSeq Alternation Syntax
- NM_001079811.3:c.277G>A
- ClinVar RefSeq Alternation Syntax
- NM_001317040.2:c.511G>A
- ClinVar RefSeq Alternation Syntax
- NM_001393580.1:c.367G>A
- ClinVar RefSeq Alternation Syntax
- NM_001135602.3:c.246-3292G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1991-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000976
- ClinVar Disease
- Infantile GM1 gangliosidosis
- Observed Origin Sample
- germline
- Pubmed
- 1907800
Drugs