Variant (rsID / SNP)

rs139373407

rs139373407 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC52A1. Location: chromosome 17, position 4,937,156. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SLC52A1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:4937156
Cytoband: 17p13.2
HGVS: NM_017986.4(SLC52A1):c.628G>A (p.Ala210Thr)
Allele change: Missense_A210T

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.