Variant: rs1204865094 

    present in Gene: C19orf12
    present in Chromosome: 19
    Position on Chromosome: 29708331
    Alleles of this Variant: G/A

rs1204865094 in C19orf12 gene and NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 PMID 26187298 2015 Behr syndrome with homozygous C19ORF12 mutation.

PMID 22508347 2012 A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.

PMID 26136767 2015 Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺.

PMID 21981780 2011 Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

PMID 23857908 2013 Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.

PMID 25592411 2015 Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.

PMID 22704260 2012 C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.

PMID 23278385 2013 Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration.

PMID 23269600 2013 New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

PMID 22584950 2012 C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.

PMID 23521069 2014 A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy.