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Variant (rsID / SNP)

rs267606686

SLC52A3

rs267606686 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC52A3. Location: chromosome 20, position 746,313. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC52A3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:746313
Cytoband
20p13
HGVS
NM_033409.4(SLC52A3):c.106G>A (p.Glu36Lys)
Allele change
Missense_E36K

Associated conditions / phenotypes

Brown-Vialetto-van Laere syndrome 1|Progressive bulbar palsy of childhood

Public references

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