Variant (rsID / SNP)

rs80359819

rs80359819 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A1. Location: chromosome 1, position 43,396,425. 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: 1:43396425
Cytoband: 1p34.2
HGVS: NM_006516.4(SLC2A1):c.388G>C (p.Gly130Arg)
Allele change: Missense_G130S

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.