Annotation Detail
Information
- Associated Genes
- SLC2A1
- Associated Variants
-
SLC2A1 p.Arg126His (p.R126H)
(
ENST00000674765.1,
ENST00000426263.10 )
SLC2A1 p.Arg126His (p.R126H) ( ENST00000426263.10, ENST00000674765.1 ) - Associated Disease
- Childhood onset GLUT1 deficiency syndrome 2
- Source Database
- ClinVar
- Description
- NM_006516.4(SLC2A1):c.377G>A (p.Arg126His) AND Childhood onset GLUT1 deficiency syndrome 2
- ClinVar Allele ID
- 31150
- ClinVar RefSeq Alternation Syntax
- NM_006516.4:c.377G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-06-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002288508
- ClinVar Disease
- Childhood onset GLUT1 deficiency syndrome 2
- Observed Origin Sample
- germline
Drugs