Variant: rs151340631 

    present in Gene: PGK1;ATP7A
    present in Chromosome: X
    Position on Chromosome: 78011216
    Alleles of this Variant: C/G;T

rs151340631 in PGK1;ATP7A gene and Cutis laxa, x-linked PMID 17108763 2006 Functional copper transport explains neurologic sparing in occipital horn syndrome.

PMID 21667063 2012 The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression.

PMID 9246006 1997 A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.

PMID 21487442 2011 Clinical utility gene card for: Menkes disease.

PMID 11431706 2001 A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.