Variant (rsID / SNP)

rs370499474

rs370499474 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC52A3. Location: chromosome 20, position 744,419. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SLC52A3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 20:744419
Cytoband: 20p13
HGVS: NM_033409.4(SLC52A3):c.796C>T (p.Arg266Trp)
Allele change: Missense_R266W

Associated conditions / phenotypes

Brown-Vialetto-van Laere syndrome 1

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.