Variant: rs104893652 

    present in Gene: CCDC140;PAX3
    present in Chromosome: 2
    Position on Chromosome: 222297158
    Alleles of this Variant: G/C

rs104893652 in CCDC140;PAX3 gene and Craniofacial deafness hand syndrome PMID 8664898 1996 Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.