Variant: rs515726205 

    present in Gene: C19orf12
    present in Chromosome: 19
    Position on Chromosome: 29702966
    Alleles of this Variant: C/T

rs515726205 in C19orf12 gene and NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 PMID 23269600 2013 New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

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

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

PMID 23494994 2013 Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation.

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

rs515726205 in C19orf12 gene and SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE PMID 23269600 2013 New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

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

PMID 23494994 2013 Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation.

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