Annotation Detail
Information
- Associated Genes
- GLB1
- Associated Variants
-
GLB1 p.Thr500Ala (p.T500A)
(
ENST00000307363.10,
ENST00000307377.12,
ENST00000399402.7 )
GLB1 p.Thr500Ala (p.T500A) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 ) - Associated Disease
- Mucopolysaccharidosis, MPS-IV-B
- Source Database
- ClinVar
- Description
- NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) AND Mucopolysaccharidosis, MPS-IV-B
- ClinVar Allele ID
- 15981
- ClinVar RefSeq Alternation Syntax
- NM_001135602.3:c.1105A>G
- ClinVar RefSeq Alternation Syntax
- NM_000404.4:c.1498A>G
- ClinVar RefSeq Alternation Syntax
- NM_001079811.3:c.1408A>G
- ClinVar RefSeq Alternation Syntax
- NM_001317040.2:c.1642A>G
- ClinVar RefSeq Alternation Syntax
- NM_001393580.1:c.1498A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2001-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000991
- ClinVar Disease
- Mucopolysaccharidosis, MPS-IV-B
- Observed Origin Sample
- germline
- Pubmed
- 8922281
- Pubmed
- 11511921
Drugs