Annotation Detail
Information
- Associated Genes
- SLC2A1
- Associated Variants
-
SLC2A1 p.Val105= (p.V105=)
(
ENST00000426263.10,
ENST00000674765.1 )
SLC2A1 p.Val105= (p.V105=) ( ENST00000426263.10, ENST00000674765.1 ) - Associated Disease
- SLC2A1-related disorder
- Source Database
- ClinVar
- Description
- NM_006516.4(SLC2A1):c.315G>C (p.Val105=) AND SLC2A1-related disorder
- ClinVar Allele ID
- 2116666
- ClinVar RefSeq Alternation Syntax
- NM_006516.4:c.315G>C
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-12-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004548420
- ClinVar Disease
- SLC2A1-related disorder
- Observed Origin Sample
- germline
Drugs