Variant: rs387907075 

    present in Gene: ALLC;COLEC11
    present in Chromosome: 2
    Position on Chromosome: 3643807
    Alleles of this Variant: T/C

rs387907075 in ALLC;COLEC11 gene and Carnevale syndrome PMID 25912189 2015 Molecular basis of sugar recognition by collectin-K1 and the effects of mutations associated with 3MC syndrome.

PMID 21258343 2011 Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.

PMID 28301481 2017 COLEC10 is mutated in 3MC patients and regulates early craniofacial development.