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Variant (rsID / SNP)

rs1057518953

SLC2A1

rs1057518953 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A1. Location: chromosome 1, position 43,396,413. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SLC2A1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:43396413
Cytoband
1p34.2
HGVS
NM_006516.4(SLC2A1):c.400G>A (p.Gly134Ser)
Allele change
Missense_G134S

Associated conditions / phenotypes

Paroxysmal dystonia|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.