Variant (rsID / SNP)

rs80356489

rs80356489 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC37A4. Location: chromosome 11, position 118,898,933. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC37A4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:118898933
Cytoband: 11q23.3
HGVS: NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg)
Allele change: Missense_W118R

Associated conditions / phenotypes

Glucose-6-phosphate transport defect

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.