Variant: rs104894003 

    present in Gene: ACTB
    present in Chromosome: 7
    Position on Chromosome: 5528536
    Alleles of this Variant: G/A

rs104894003 in ACTB gene and Dysmorphic features PMID 22495914 2012 Clinical and molecular characterization of a second case of 7p22.1 microduplication.

PMID 25156961 2015 Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders.

PMID 16685646 2006 A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.

PMID 10411937 1999 A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection.

PMID 27240540 2016 Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

PMID 23756437 2014 Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.

PMID 27868373 2017 Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome.

PMID 22366783 2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

PMID 25052316 2015 Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

PMID 23649928 2013 Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.

rs104894003 in ACTB gene and Juvenile-onset dystonia PMID 12325076 2002 Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia.

PMID 16685646 2006 A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.