Variant (rsID / SNP)

rs181879065

rs181879065 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC37A4. Location: chromosome 11, position 118,899,043. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SLC37A4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:118899043
Cytoband: 11q23.3
HGVS: NM_001164277.2(SLC37A4):c.242C>T (p.Ser81Phe)
Allele change: Missense_S81F

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.