Variant: rs1553699115 

    present in Gene: SETD2
    present in Chromosome: 3
    Position on Chromosome: 47116749
    Alleles of this Variant: TTCT/-

rs1553699115 in SETD2 gene and Dysmorphic features PMID 24852293 2014 Mutations in SETD2 cause a novel overgrowth condition.

PMID 24901346 2014 The usefulness of whole-exome sequencing in routine clinical practice.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 27317772 2016 SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort.

PMID 25574603 2015 Whole exome sequencing in females with autism implicates novel and candidate genes.

PMID 28424246 2017 Enteropathy-associated T cell lymphoma subtypes are characterized by loss of function of SETD2.

PMID 26084711 2015 Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.