Annotation Detail
Information
- Associated Genes
- SLC2A1
- Associated Variants
-
SLC2A1 p.Arg126Leu (p.R126L)
(
ENST00000674765.1,
ENST00000426263.10 )
SLC2A1 p.Arg126Leu (p.R126L) ( ENST00000426263.10, ENST00000674765.1 ) - Associated Disease
- GLUT1 deficiency syndrome 1, autosomal recessive
- Source Database
- ClinVar
- Description
- NM_006516.4(SLC2A1):c.377G>T (p.Arg126Leu) AND GLUT1 deficiency syndrome 1, autosomal recessive
- ClinVar Allele ID
- 31148
- ClinVar RefSeq Alternation Syntax
- NM_006516.4:c.377G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2000-09-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000017489
- ClinVar Disease
- GLUT1 deficiency syndrome 1, autosomal recessive
- Observed Origin Sample
- germline
- Pubmed
- 10980529
Drugs