Variant: rs1304422857 

    present in Gene: UBE3B
    present in Chromosome: 12
    Position on Chromosome: 109511304
    Alleles of this Variant: G/A;T

rs1304422857 in UBE3B gene and Dysmorphic features PMID 29160006 2018 Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.

PMID 28003643 2017 Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

PMID 23687348 2013 Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.

PMID 24615390 2014 Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.

PMID 23200864 2012 Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

PMID 28003368 2017 UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase.

PMID 25691420 2015 Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.

PMID 12837265 2003 Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing.

rs1304422857 in UBE3B gene and Multiple congenital anomalies PMID 23687348 2013 Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.

PMID 29160006 2018 Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.

PMID 25691420 2015 Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.

PMID 12837265 2003 Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing.

PMID 28003368 2017 UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase.

PMID 24615390 2014 Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.

PMID 28003643 2017 Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

PMID 23200864 2012 Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

rs1304422857 in UBE3B gene and Muscle hypotonia PMID 28003643 2017 Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

PMID 12837265 2003 Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing.

PMID 23687348 2013 Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.

PMID 24615390 2014 Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.

PMID 23200864 2012 Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

PMID 28003368 2017 UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase.

PMID 29160006 2018 Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.

PMID 25691420 2015 Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.