Variant (rsID / SNP)

rs346822

rs346822 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC52A1. Location: chromosome 17, position 4,937,575. Clinical significance in the table: Benign.

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Reference-table entries

SLC52A1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:4937575
Cytoband: 17p13.2
HGVS: NM_017986.4(SLC52A1):c.209A>G (p.Gln70Arg)
Allele change: Missense_Q70R

Associated conditions / phenotypes

Ariboflavinosis

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.