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Variant (rsID / SNP)

rs4658

SLC2A1

rs4658 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A1. Location: chromosome 1, position 43,392,250. Clinical significance in the table: Benign.

Reference-table entries

SLC2A1Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
1:43392250
Cytoband
1p34.2
HGVS
NM_006516.4(SLC2A1):c.*462G>C
Allele change
Silent

Associated conditions / phenotypes

Encephalopathy due to GLUT1 deficiency|Dystonia 9

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.