Variant: rs1553518509 

    present in Gene: MBD5
    present in Chromosome: 2
    Position on Chromosome: 148468916
    Alleles of this Variant: C/T

rs1553518509 in MBD5 gene and Autism Spectrum Disorders PMID 30763456 2019 Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.

rs1553518509 in MBD5 gene and Multiple congenital anomalies PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 27514998 2016 Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).

PMID 17847001 2007 Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.

PMID 22726846 2012 Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

PMID 23422940 2013 Extended spectrum of MBD5 mutations in neurodevelopmental disorders.

PMID 21981781 2011 Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

PMID 23632792 2014 Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

PMID 23587880 2014 Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.

PMID 26147564 2015 Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 24779060 2014 If not Angelman, what is it? A review of Angelman-like syndromes.