Variant: rs1468358104 

    present in Gene: FLVCR1;FLVCR1-DT
    present in Chromosome: 1
    Position on Chromosome: 212858454
    Alleles of this Variant: T/C

rs1468358104 in FLVCR1;FLVCR1-DT gene and Movement Disorders PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

PMID 9409377 1997 An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa.

PMID 21267618 2011 Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.

PMID 27923065 2016 Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.

PMID 24628582 2015 Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene.

PMID 21070897 2010 Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.

rs1468358104 in FLVCR1;FLVCR1-DT gene and Muscle hypotonia PMID 9409377 1997 An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa.

PMID 21267618 2011 Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.

PMID 21070897 2010 Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.

PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

PMID 27923065 2016 Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.

PMID 24628582 2015 Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene.