Variant: rs387906657 

    present in Gene: MYBPC1
    present in Chromosome: 12
    Position on Chromosome: 101642459
    Alleles of this Variant: T/C

rs387906657 in MYBPC1 gene and ARTHROGRYPOSIS, DISTAL, TYPE 1B PMID 26661508 2016 Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.

PMID 20045868 2010 Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.