Variant: rs1217230904 

    present in Gene: POLR3A
    present in Chromosome: 10
    Position on Chromosome: 78021978
    Alleles of this Variant: C/G

rs1217230904 in POLR3A gene and Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism PMID 22036171 2011 Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.

PMID 21855841 2011 Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.

PMID 23694757 2014 Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination.

PMID 23355746 2013 Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.