Annotation Detail
Information
- Associated Genes
- SLC2A1
- Associated Variants
-
SLC2A1 p.Arg333Trp (p.R333W)
(
ENST00000674765.1,
ENST00000426263.10 )
SLC2A1 p.Arg333Trp (p.R333W) ( ENST00000426263.10, ENST00000674765.1 ) - Associated Disease
- Hereditary cryohydrocytosis with reduced stomatin Epilepsy, idiopathic generalized, susceptibility to, 12 Childhood onset GLUT1 deficiency syndrome 2 Encephalopathy due to GLUT1 deficiency dystonia 9
- Source Database
- ClinVar
- Description
- NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) AND multiple conditions
- ClinVar Allele ID
- 196002
- ClinVar RefSeq Alternation Syntax
- NM_006516.4:c.997C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000763336
- ClinVar Disease
- Epilepsy, idiopathic generalized, susceptibility to, 12
- ClinVar Disease
- Encephalopathy due to GLUT1 deficiency
- ClinVar Disease
- Hereditary cryohydrocytosis with reduced stomatin
- ClinVar Disease
- Dystonia 9
- ClinVar Disease
- Childhood onset GLUT1 deficiency syndrome 2
- Observed Origin Sample
- unknown
Drugs