Annotation Detail
Information
- Associated Genes
- GLB1
- Associated Variants
-
GLB1 p.Gly438Glu (p.G438E)
(
ENST00000307363.10,
ENST00000307377.12,
ENST00000399402.7 )
GLB1 p.Gly438Glu (p.G438E) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 ) - Associated Disease
- spondyloepiphyseal dysplasia
- Source Database
- ClinVar
- Description
- NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu) AND Spondyloepiphyseal dysplasia
- ClinVar Allele ID
- 15979
- ClinVar RefSeq Alternation Syntax
- NM_001393580.1:c.1313G>A
- ClinVar RefSeq Alternation Syntax
- NM_001079811.3:c.1223G>A
- ClinVar RefSeq Alternation Syntax
- NM_001317040.2:c.1457G>A
- ClinVar RefSeq Alternation Syntax
- NM_000404.4:c.1313G>A
- ClinVar RefSeq Alternation Syntax
- NM_001135602.3:c.920G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-03-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001843450
- ClinVar Disease
- Spondyloepiphyseal dysplasia
- Observed Origin Sample
- biparental
Drugs