Annotation Detail
Information
- Associated Genes
- GLB1
- Associated Variants
-
GLB1 p.Ile51Thr (p.I51T)
(
ENST00000307363.10,
ENST00000307377.12,
ENST00000399402.7 )
GLB1 p.Ile51Thr (p.I51T) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 ) - Associated Disease
- GM1 gangliosidosis type 3
- Source Database
- ClinVar
- Description
- NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) AND GM1 gangliosidosis type 3
- ClinVar Allele ID
- 15965
- ClinVar RefSeq Alternation Syntax
- NM_001079811.3:c.62T>C
- ClinVar RefSeq Alternation Syntax
- NM_000404.4:c.152T>C
- ClinVar RefSeq Alternation Syntax
- NM_001393580.1:c.152T>C
- ClinVar RefSeq Alternation Syntax
- NM_001317040.2:c.296T>C
- ClinVar RefSeq Alternation Syntax
- NM_001135602.3:c.152T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1992-03-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000974
- ClinVar Disease
- GM1 gangliosidosis type 3
- Observed Origin Sample
- germline
- Pubmed
- 1909089
- Pubmed
- 1353343
- Pubmed
- 1907800
Drugs