Variant (rsID / SNP)

rs531385270

rs531385270 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A1. Location: chromosome 1, position 43,394,874. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC2A1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: Deletion
Chromosome / position: 1:43394874
Cytoband: 1p34.2
HGVS: NM_006516.4(SLC2A1):c.972+7del

Associated conditions / phenotypes

Dystonic disorder|GLUT1 deficiency syndrome|GLUT1 deficiency syndrome 1, autosomal recessive

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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