Variant: rs1561892336 

    present in Gene: CUL7;KLC4
    present in Chromosome: 6
    Position on Chromosome: 43050050
    Alleles of this Variant: C/T

rs1561892336 in CUL7;KLC4 gene and Abnormality of the elbow PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561892336 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.

rs1561892336 in CUL7;KLC4 gene and Frontal bossing PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561892336 in CUL7;KLC4 gene and Hypoplastic pelvis PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561892336 in CUL7;KLC4 gene and Intrauterine retardation PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561892336 in CUL7;KLC4 gene and Joint hyperflexibility PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561892336 in CUL7;KLC4 gene and Long narrow head PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561892336 in CUL7;KLC4 gene and Lordosis PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561892336 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.

rs1561892336 in CUL7;KLC4 gene and Scoliosis, unspecified PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561892336 in CUL7;KLC4 gene and Short stature PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561892336 in CUL7;KLC4 gene and Short thorax PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs1561892336 in CUL7;KLC4 gene and Triangular face PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.