Variant (rsID / SNP)

rs5400

rs5400 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A2. Location: chromosome 3, position 170,732,300. Clinical significance in the table: Benign.

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Reference-table entries

SLC2A2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:170732300
Cytoband: 3q26.2
HGVS: NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile)
Allele change: Silent

Associated conditions / phenotypes

Fanconi-Bickel syndrome

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.