Annotation Detail
Information
- Associated Genes
- SLC2A1
- Associated Variants
-
SLC2A1 p.Arg223Gln (p.R223Q)
(
ENST00000674765.1,
ENST00000426263.10 )
SLC2A1 p.Arg223Gln (p.R223Q) ( ENST00000426263.10, ENST00000674765.1 ) - Associated Disease
- Encephalopathy due to GLUT1 deficiency
- Source Database
- ClinVar
- Description
- NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln) AND Encephalopathy due to GLUT1 deficiency
- ClinVar Allele ID
- 823985
- ClinVar RefSeq Alternation Syntax
- NM_006516.4:c.668G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-04-11
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003389331
- ClinVar Disease
- Encephalopathy due to GLUT1 deficiency
- Observed Origin Sample
- germline
Drugs