Variant (rsID / SNP)
rs202060209
rs202060209 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A1. Location: chromosome 1, position 43,396,718. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
SLC2A1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:43396718
- Cytoband
- 1p34.2
- HGVS
- NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp)
- Allele change
- Missense_R92W
Associated conditions / phenotypes
Childhood onset GLUT1 deficiency syndrome 2|GLUT1 deficiency syndrome 1, autosomal recessive|Intellectual disability|Developmental disorder|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.