Variant (rsID / SNP)
rs387907312
rs387907312 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A1. Location: chromosome 1, position 43,395,589. Clinical significance in the table: Pathogenic.
Reference-table entries
SLC2A1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:43395589
- Cytoband
- 1p34.2
- HGVS
- NM_006516.4(SLC2A1):c.634C>T (p.Arg212Cys)
- Allele change
- Missense_R212C
Associated conditions / phenotypes
Dystonia 9|GLUT1 deficiency syndrome 1, autosomal recessive
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.