Variant: rs1156904586 

    present in Gene: ATP8A2
    present in Chromosome: 13
    Position on Chromosome: 25577115
    Alleles of this Variant: -/T

rs1156904586 in ATP8A2 gene and Movement Disorders PMID 28454995 2017 A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.

PMID 27679995 2016 New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.

PMID 22912588 2012 Mutations in a P-type ATPase gene cause axonal degeneration.

PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

PMID 22892528 2013 Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.

rs1156904586 in ATP8A2 gene and Muscle hypotonia PMID 28454995 2017 A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.

PMID 22892528 2013 Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.

PMID 22912588 2012 Mutations in a P-type ATPase gene cause axonal degeneration.

PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

PMID 27679995 2016 New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.