Annotation Detail
Information
- Associated Genes
- GLB1
- Associated Variants
-
GLB1 p.Leu392ValfsTer64 (p.L392Vfs*64)
(
ENST00000307363.10,
ENST00000307377.12,
ENST00000399402.7 )
GLB1 p.Leu392ValfsTer64 (p.L392Vfs*64) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 ) - Associated Disease
- GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B
- Source Database
- ClinVar
- Description
- NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs) AND multiple conditions
- ClinVar Allele ID
- 98800
- ClinVar RefSeq Alternation Syntax
- NM_000404.4:c.1174_1175del
- ClinVar RefSeq Alternation Syntax
- NM_001317040.2:c.1318_1319del
- ClinVar RefSeq Alternation Syntax
- NM_001079811.3:c.1084_1085del
- ClinVar RefSeq Alternation Syntax
- NM_001135602.3:c.781_782del
- ClinVar RefSeq Alternation Syntax
- NM_001393580.1:c.1174_1175del
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2018-01-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000672348
- ClinVar Disease
- GM1 gangliosidosis type 3
- ClinVar Disease
- GM1 gangliosidosis type 2
- ClinVar Disease
- Infantile GM1 gangliosidosis
- ClinVar Disease
- Mucopolysaccharidosis, MPS-IV-B
- Observed Origin Sample
- unknown
Drugs