Variant: rs397514538 

    present in Gene: SLC52A2;FBXL6
    present in Chromosome: 8
    Position on Chromosome: 144359860
    Alleles of this Variant: T/C

rs397514538 in SLC52A2;FBXL6 gene and BROWN-VIALETTO-VAN LAERE SYNDROME 2 PMID 22864630 2012 Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.

PMID 24253200 2014 Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

PMID 27702554 2016 SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters.

PMID 22740598 2012 Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.

PMID 23243084 2013 Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations.