Variant: rs143141689 

    present in Gene: ORC1
    present in Chromosome: 1
    Position on Chromosome: 52397773
    Alleles of this Variant: C/T

rs143141689 in ORC1 gene and EAR, PATELLA, SHORT STATURE SYNDROME PMID 23516378 2013 Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome.

PMID 25689043 2015 Recent studies have identified several genetic mutations within the BAH domain of human Origin Recognition Complex subunit 1 (hORC1BAH), including the R105Q mutation, implicated in Meier-Gorlin Syndrome (MGS).

PMID 22855792 2012 Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication.

PMID 22333897 2012 Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.

PMID 21358633 2011 Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.

rs143141689 in ORC1 gene and MEIER-GORLIN SYNDROME 1 PMID 25689043 2015 A Meier-Gorlin syndrome mutation impairs the ORC1-nucleosome association.

PMID 21358631 2011 Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.

PMID 21358632 2011 Mutations in the pre-replication complex cause Meier-Gorlin syndrome.

PMID 21358633 2011 Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.

PMID 22855792 2012 Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication.

PMID 23023959 2012 Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.