Variant (rsID / SNP)

rs267606684

rs267606684 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC52A3. Location: chromosome 20, position 746,025. 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: 20:746025
Cytoband: 20p13
HGVS: NM_033409.4(SLC52A3):c.394C>T (p.Arg132Trp)
Allele change: Missense_R132W

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.