Variant (rsID / SNP)

rs796053253

rs796053253 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A1. Location: chromosome 1, position 43,394,882. 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: 1:43394882
Cytoband: 1p34.2
HGVS: NM_006516.4(SLC2A1):c.971C>T (p.Ser324Leu)
Allele change: Missense_S324L

Associated conditions / phenotypes

GLUT1 deficiency syndrome 1, autosomal recessive|Encephalopathy due to GLUT1 deficiency

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.