Variant: rs483352809 

    present in Gene: TUBB4A
    present in Chromosome: 19
    Position on Chromosome: 6495754
    Alleles of this Variant: C/T

rs483352809 in TUBB4A gene and Leukodystrophy, Hypomyelinating, 6 PMID 24706558 2014 Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).

PMID 24850488 2014 Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.

PMID 23582646 2013 A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.

PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.