Variant: rs1553173425

present in Gene: DVL1 present in Chromosome: 1 Position on Chromosome: 1338112 Alleles of this Variant: G/-

rs1553173425 in DVL1 gene and Multiple congenital anomalies PMID 17256787 2007 Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome.

PMID 25817014 2015 Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

PMID 25817016 2015 DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.