Variant: rs587781196 

    present in Gene: SNHG14;UBE3A
    present in Chromosome: 15
    Position on Chromosome: 25370913
    Alleles of this Variant: G/A

rs587781196 in SNHG14;UBE3A gene and Angelman Syndrome PMID 25212744 2014 Mutation Update for UBE3A variants in Angelman syndrome.

rs587781196 in SNHG14;UBE3A gene and Movement Disorders PMID 15263005 2004 Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein.

PMID 25212744 2014 Mutation Update for UBE3A variants in Angelman syndrome.

PMID 17765640 2008 Are there distinctive sleep problems in Angelman syndrome?

PMID 17940072 2008 The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology.

PMID 26219744 2015 The neurobehavioral and molecular phenotype of Angelman Syndrome.

PMID 22670133 2012 Molecular and Clinical Aspects of Angelman Syndrome.

PMID 25884337 2015 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.

PMID 8988171 1997 UBE3A/E6-AP mutations cause Angelman syndrome.

PMID 2309781 1990 Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.

PMID 16470747 2006 Angelman syndrome 2005: updated consensus for diagnostic criteria.

PMID 24876791 2014 Angelman syndrome: review of clinical and molecular aspects.

PMID 19213023 2009 Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions.