Variant (rsID / SNP)

rs121909739

rs121909739 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A1. Location: chromosome 1, position 43,394,913. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SLC2A1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:43394913
Cytoband: 1p34.2
HGVS: NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser)
Allele change: Missense_G314S

Associated conditions / phenotypes

Childhood onset GLUT1 deficiency syndrome 2|GLUT1 deficiency syndrome 1, autosomal recessive|Encephalopathy due to GLUT1 deficiency|Dystonia 9

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.