Variant: rs762334954 

    present in Gene: OBSL1
    present in Chromosome: 2
    Position on Chromosome: 219568063
    Alleles of this Variant: -/T

rs762334954 in OBSL1 gene and Three M Syndrome 2 PMID 19481195 2009 The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.

PMID 19877176 2010 OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels.

PMID 25923536 2015 Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome.