Annotation Detail
Information
- Associated Genes
- SLC2A1
- Associated Variants
-
SLC2A1 p.Arg126Cys (p.R126C)
(
ENST00000426263.10,
ENST00000674765.1 )
SLC2A1 p.Arg126Cys (p.R126C) ( ENST00000426263.10, ENST00000674765.1 ) - Associated Disease
- Hereditary cryohydrocytosis with reduced stomatin
- Source Database
- ClinVar
- Description
- NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) AND Hereditary cryohydrocytosis with reduced stomatin
- ClinVar Allele ID
- 31157
- ClinVar RefSeq Alternation Syntax
- NM_006516.4:c.376C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2019-01-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000824987
- ClinVar Disease
- Hereditary cryohydrocytosis with reduced stomatin
- Observed Origin Sample
- de novo
- Observed Origin Sample
- unknown
Drugs