Variant: rs760929207 

    present in Gene: OBSL1
    present in Chromosome: 2
    Position on Chromosome: 219568050
    Alleles of this Variant: ACCTTTGACTG/-

rs760929207 in OBSL1 gene and Delayed bone age PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs760929207 in OBSL1 gene and Enlarged thorax PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs760929207 in OBSL1 gene and Joint hyperflexibility PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs760929207 in OBSL1 gene and Long narrow head PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs760929207 in OBSL1 gene and Long philtrum PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs760929207 in OBSL1 gene and Lordosis PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs760929207 in OBSL1 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.

rs760929207 in OBSL1 gene and Pointed chin PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs760929207 in OBSL1 gene and Short neck PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs760929207 in OBSL1 gene and Short stature PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs760929207 in OBSL1 gene and Short thorax PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

rs760929207 in OBSL1 gene and Slender long bone PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.