Variant: rs267608247 

    present in Gene: PEX6
    present in Chromosome: 6
    Position on Chromosome: 42965078
    Alleles of this Variant: C/A;G;T

rs267608247 in PEX6 gene and Dysmorphic features PMID 26387595 2015 Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

PMID 22871920 2012 Genetics and molecular basis of human peroxisome biogenesis disorders.

PMID 26593283 2016 PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.

PMID 15098234 2004 Metabolic and molecular basis of peroxisomal disorders: a review.

PMID 11873320 2002 A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.

PMID 15098231 2004 Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.

PMID 8670792 1996 The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.

PMID 17055079 2006 Peroxisome biogenesis disorders.

rs267608247 in PEX6 gene and Muscle hypotonia PMID 22871920 2012 Genetics and molecular basis of human peroxisome biogenesis disorders.

PMID 17055079 2006 Peroxisome biogenesis disorders.

PMID 8670792 1996 The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.

PMID 26387595 2015 Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

PMID 11873320 2002 A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.

PMID 15098231 2004 Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.

PMID 26593283 2016 PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.

PMID 15098234 2004 Metabolic and molecular basis of peroxisomal disorders: a review.