present in Gene: ASXL1
present in Chromosome: 20
Position on Chromosome: 32435475
Alleles of this Variant: TGTTGAGC/CAA
rs1555912285 in
ASXL1 gene and
Dysmorphic features
PMID 26364555 2015 Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome.
PMID 25921057 2015 Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.
PMID 22419483 2012 Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.
PMID 21368916 2011 Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.
PMID 21706002 2011 De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
PMID 22436456 2012 Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases.
PMID 15040442 2004 Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.
rs1555912285 in
ASXL1 gene and
Movement Disorders
PMID 22436456 2012 Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases.
PMID 25921057 2015 Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.
PMID 21706002 2011 De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
PMID 21368916 2011 Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.
PMID 22419483 2012 Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.
PMID 26364555 2015 Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome.
rs1555912285 in
ASXL1 gene and
Muscle hypotonia
PMID 22419483 2012 Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.
PMID 25921057 2015 Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.
PMID 22436456 2012 Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases.
PMID 21706002 2011 De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
PMID 26364555 2015 Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome.
PMID 21368916 2011 Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.