Variant (rsID / SNP)
rs75852730
rs75852730 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A1. Location: chromosome 1, position 43,392,796. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SLC2A1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:43392796
- Cytoband
- 1p34.2
- HGVS
- NM_006516.4(SLC2A1):c.1395C>T (p.Ser465=)
- Allele change
- Synonymous_S465S
Associated conditions / phenotypes
GLUT1 deficiency syndrome 1, autosomal recessive|Encephalopathy due to GLUT1 deficiency|Childhood onset GLUT1 deficiency syndrome 2|Hereditary cryohydrocytosis with reduced stomatin|Dystonia 9|Epilepsy, idiopathic generalized, susceptibility to, 12
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.