Variant: rs281875331 

    present in Gene: ACTB
    present in Chromosome: 7
    Position on Chromosome: 5529624
    Alleles of this Variant: T/C;G

rs281875331 in ACTB gene and Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation PMID 25052316 2015 Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

PMID 22366783 2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.