Variant (rsID / SNP)

rs80359816

rs80359816 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A1. Location: chromosome 1, position 43,396,436. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC2A1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:43396436
Cytoband: 1p34.2
HGVS: NM_006516.4(SLC2A1):c.377G>T (p.Arg126Leu)
Allele change: Missense_R126H

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.