Variant: rs1219868273 

    present in Gene: SLC52A3
    present in Chromosome: 20
    Position on Chromosome: 761774
    Alleles of this Variant: C/T

rs1219868273 in SLC52A3 gene and Brown-Vialetto-Van Laere Syndrome 1 PMID 20206331 2010 Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.

PMID 20920669 2010 Exome sequencing in Brown-Vialetto-van Laere syndrome.

PMID 21110228 2011 Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.

PMID 22718020 2012 Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.

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 22824638 2012 Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.

PMID 22273710 2012 Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2).

PMID 22633641 2012 Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene.