Variant: rs1555742500 

    present in Gene: ASXL3
    present in Chromosome: 18
    Position on Chromosome: 33739379
    Alleles of this Variant: GACA/-

rs1555742500 in ASXL3 gene and Dysmorphic features PMID 24044690 2013 De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.

PMID 27901041 2017 Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.

PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 21706002 2011 De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

PMID 23383720 2013 De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.

PMID 28955728 2017 Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.

PMID 26647312 2016 De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.

PMID 28100473 2017 Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.

rs1555742500 in ASXL3 gene and Muscle hypotonia PMID 23383720 2013 De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.

PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

PMID 28100473 2017 Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.

PMID 27901041 2017 Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.

PMID 26647312 2016 De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.

PMID 28955728 2017 Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 24044690 2013 De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.

PMID 21706002 2011 De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.