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Variant (rsID / SNP)

rs148518827

SLC2A1

rs148518827 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A1. Location: chromosome 1, position 43,394,958. 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
single nucleotide variant
Chromosome / position
1:43394958
Cytoband
1p34.2
HGVS
NM_006516.4(SLC2A1):c.895G>A (p.Glu299Lys)
Allele change
Missense_E299K

Associated conditions / phenotypes

Encephalopathy due to GLUT1 deficiency|Dystonia 9|GLUT1 deficiency syndrome 1, autosomal recessive|History of neurodevelopmental disorder

Public references

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