Annotation Detail
Information
- Associated Genes
- SLC2A1
- Associated Variants
-
SLC2A1 p.Thr295Met (p.T295M)
(
ENST00000426263.10,
ENST00000674765.1 )
SLC2A1 p.Thr295Met (p.T295M) ( ENST00000426263.10, ENST00000674765.1 ) - Associated Disease
- Encephalopathy due to GLUT1 deficiency
- Source Database
- ClinVar
- Description
- NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met) AND Encephalopathy due to GLUT1 deficiency
- ClinVar Allele ID
- 201150
- ClinVar RefSeq Alternation Syntax
- NM_006516.4:c.884C>T
- Clinical Significance Description
- Pathogenic
- 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/RCV000193872
- ClinVar Disease
- Encephalopathy due to GLUT1 deficiency
- Observed Origin Sample
- germline
Drugs