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Variant (rsID / SNP)

rs80359818

SLC2A1

rs80359818 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A1. Location: chromosome 1, position 43,396,437. 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
1:43396437
Cytoband
1p34.2
HGVS
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)
Allele change
Missense_R126C

Associated conditions / phenotypes

Encephalopathy due to GLUT1 deficiency|Childhood onset GLUT1 deficiency syndrome 2|Dystonia 9|GLUT1 deficiency syndrome 1, autosomal recessive|Hereditary cryohydrocytosis with reduced stomatin

Public references

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