Annotation Detail
Information
- Associated Genes
- SLC2A1
- Associated Variants
-
SLC2A1 p.Gln242Ter (p.Q242*)
(
ENST00000426263.10,
ENST00000674765.1 )
SLC2A1 p.Gln242Ter (p.Q242*) ( ENST00000426263.10, ENST00000674765.1 ) - Associated Disease
- Childhood onset GLUT1 deficiency syndrome 2
- Source Database
- ClinVar
- Description
- NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter) AND Childhood onset GLUT1 deficiency syndrome 2
- ClinVar Allele ID
- 198605
- ClinVar RefSeq Alternation Syntax
- NM_006516.4:c.724C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-10-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001333547
- ClinVar Disease
- Childhood onset GLUT1 deficiency syndrome 2
- Observed Origin Sample
- de novo
Drugs