Variant: rs1553630279 

    present in Gene: CTNNB1
    present in Chromosome: 3
    Position on Chromosome: 41225049
    Alleles of this Variant: C/T

rs1553630279 in CTNNB1 gene and CATARACT 32, MULTIPLE TYPES PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.

PMID 2614104 1989 [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass].

rs1553630279 in CTNNB1 gene and Cerebral Palsy PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.

PMID 2614104 1989 [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass].

rs1553630279 in CTNNB1 gene and Dysarthria PMID 2614104 1989 [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass].

PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.

PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

rs1553630279 in CTNNB1 gene and Little's Disease PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.

PMID 2614104 1989 [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass].

PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

rs1553630279 in CTNNB1 gene and Lower limb hypertonia PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

PMID 2614104 1989 [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass].

PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.

rs1553630279 in CTNNB1 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 PMID 2614104 1989 [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass].

PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.

PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

rs1553630279 in CTNNB1 gene and Severe intellectual disability PMID 2614104 1989 [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass].

PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.