Variant: rs1555185778 

    present in Gene: CNTN1
    present in Chromosome: 12
    Position on Chromosome: 40944171
    Alleles of this Variant: G/A

rs1555185778 in CNTN1 gene and Myopathy, Congenital, Compton-North PMID 19026398 2008 Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.

PMID 22242131 2011 A spontaneous mutation in contactin 1 in the mouse.