Variant: rs1060499547 

    present in Gene: ABL1
    present in Chromosome: 9
    Position on Chromosome: 130862890
    Alleles of this Variant: A/G

rs1060499547 in ABL1 gene and Abnormality of skeletal morphology PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499547 in ABL1 gene and Congenital heart disease PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499547 in ABL1 gene and Failure to gain weight PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.