Variant: rs122454122 

    present in Gene: SMC1A
    present in Chromosome: X
    Position on Chromosome: 53409129
    Alleles of this Variant: T/G

rs122454122 in SMC1A gene and Congenital muscular hypertrophy-cerebral syndrome PMID 17273969 2007 Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.

PMID 17221863 2007 Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

PMID 20358602 2010 Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.

PMID 18996922 2009 Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.

PMID 20635401 2010 Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.

PMID 19701948 2009 SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.

PMID 24124034 2013 Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.

PMID 16604071 2006 X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.