Annotation Detail
Information
- Associated Genes
- SLC2A1
- Associated Variants
-
SLC2A1 p.Lys456Ter (p.K456*)
(
ENST00000426263.10,
ENST00000674765.1 )
SLC2A1 p.Lys456Ter (p.K456*) ( ENST00000426263.10, ENST00000674765.1 ) - Associated Disease
- Encephalopathy due to GLUT1 deficiency
- Source Database
- ClinVar
- Description
- NM_006516.4(SLC2A1):c.1366A>T (p.Lys456Ter) AND Encephalopathy due to GLUT1 deficiency
- ClinVar Allele ID
- 31145
- ClinVar RefSeq Alternation Syntax
- NM_006516.4:c.1366A>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1998-02-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000017486
- ClinVar Disease
- Encephalopathy due to GLUT1 deficiency
- Observed Origin Sample
- germline
- Pubmed
- 9462754
Drugs