Variant: rs370270828 

    present in Gene: BRF1
    present in Chromosome: 14
    Position on Chromosome: 105241292
    Alleles of this Variant: G/A

rs370270828 in BRF1 gene and CEREBELLOFACIODENTAL SYNDROME PMID 25561519 2015 BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.