Variant: rs137853043 

    present in Gene: TUBA1A
    present in Chromosome: 12
    Position on Chromosome: 49185576
    Alleles of this Variant: G/A;C

rs137853043 in TUBA1A gene and Lissencephaly 3 PMID 18728072 2008 Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.

PMID 17584854 2007 Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

PMID 24860126 2014 The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

PMID 25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

rs137853043 in TUBA1A gene and Muscle hypotonia PMID 18954413 2008 Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.

PMID 20466733 2010 TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

PMID 17584854 2007 Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 23361065 2013 Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

PMID 18669490 2008 Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.

PMID 25008804 2015 Mutations in α- and β-tubulin encoding genes: implications in brain malformations.

PMID 18728072 2008 Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.

PMID 24860126 2014 The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

PMID 22264709 2012 TUBA1A mutation-associated lissencephaly: case report and review of the literature.

PMID 23528852 2014 A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.