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Variant (rsID / SNP)

rs76362149

SLC2A2

rs76362149 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A2. Location: chromosome 3, position 170,716,937. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC2A2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:170716937
Cytoband
3q26.2
HGVS
NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser)
Allele change
Missense_A244S

Associated conditions / phenotypes

Fanconi-Bickel syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.