Variant (rsID / SNP)
rs80359825
rs80359825 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A1. Location: chromosome 1, position 43,394,680. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:43394680
- Cytoband
- 1p34.2
- HGVS
- NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)
- Allele change
- Missense_R333W
Associated conditions / phenotypes
GLUT1 deficiency syndrome|History of neurodevelopmental disorder|Epilepsy, idiopathic generalized, susceptibility to, 12|Encephalopathy due to GLUT1 deficiency|Childhood onset GLUT1 deficiency syndrome 2|Hereditary cryohydrocytosis with reduced stomatin|Dystonia 9|GLUT1 deficiency syndrome 1, autosomal recessive|Encephalopathy due to GLUT1 deficiency|Childhood onset GLUT1 deficiency syndrome 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.