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Variant (rsID / SNP)

rs794729221

SLC2A1

rs794729221 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A1. Location: chromosome 1, position 43,395,407. 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
1:43395407
Cytoband
1p34.2
HGVS
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter)
Allele change
Nonsense_Q242X

Associated conditions / phenotypes

Encephalopathy due to GLUT1 deficiency|Intellectual disability|Childhood onset GLUT1 deficiency syndrome 2

Public references

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