Variant: rs1561875767 

    present in Gene: CUL7;KLC4
    present in Chromosome: 6
    Position on Chromosome: 43041036
    Alleles of this Variant: G/A

rs1561875767 in CUL7;KLC4 gene and Bulbous nose PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Delayed bone age PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Increased vertebral height PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Intrauterine retardation PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Joint hyperflexibility PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Lordosis PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Miller-McKusick-Malvaux-Syndrome (3M Syndrome) PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Pointed chin PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Short stature PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Short thorax PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Slender long bone PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Small midface PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Thin rib PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561875767 in CUL7;KLC4 gene and Triangular face PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.