Variant: rs121918229 

    present in Gene: CUL7
    present in Chromosome: 6
    Position on Chromosome: 43038891
    Alleles of this Variant: T/C;G

rs121918229 in CUL7 gene and Three M Syndrome 1 PMID 23018678 2012 Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.

PMID 21364696 2011 Clinical utility gene card for: 3M syndrome.

PMID 17675530 2007 Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.

PMID 16142236 2005 Identification of mutations in CUL7 in 3-M syndrome.