Variant (rsID / SNP)
rs2236574
rs2236574 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A1. Location: chromosome 1, position 43,393,384. Clinical significance in the table: Benign.
Reference-table entries
SLC2A1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:43393384
- Cytoband
- 1p34.2
- HGVS
- NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=)
- Allele change
- Synonymous_I390I
Associated conditions / phenotypes
Dystonia 9|Encephalopathy due to GLUT1 deficiency|GLUT1 deficiency syndrome 1, autosomal recessive|History of neurodevelopmental disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.