Variant: rs1556886034 

    present in Gene: SMC1A
    present in Chromosome: X
    Position on Chromosome: 53382594
    Alleles of this Variant: C/T

rs1556886034 in SMC1A gene and Congenital muscular hypertrophy-cerebral syndrome PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

rs1556886034 in SMC1A gene and Dysmorphic features PMID 26752331 2016 De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.

PMID 7757074 1995 The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes.

PMID 26386245 2015 Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.

PMID 26358754 2015 Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

PMID 28102598 2017 Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.

PMID 26354354 2015 Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.

PMID 17221863 2007 Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

PMID 20635401 2010 Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.

PMID 22106055 2012 In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 25537356 2015 Clinical utility gene card for: Cornelia de Lange syndrome.

PMID 23106691 2012 Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.

PMID 17273969 2007 Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.

PMID 19842212 2010 Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.

PMID 16604071 2006 X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

PMID 28548707 2017 Phenotypes and genotypes in individuals with SMC1A variants.

rs1556886034 in SMC1A gene and Multiple congenital anomalies PMID 17273969 2007 Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.

PMID 28548707 2017 Phenotypes and genotypes in individuals with SMC1A variants.

PMID 16604071 2006 X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

PMID 28102598 2017 Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.

PMID 26386245 2015 Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.

PMID 26354354 2015 Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.

PMID 7757074 1995 The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes.

PMID 26752331 2016 De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.

PMID 26358754 2015 Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

PMID 17221863 2007 Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

PMID 22106055 2012 In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 20635401 2010 Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.

PMID 19842212 2010 Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.

PMID 23106691 2012 Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.

PMID 25537356 2015 Clinical utility gene card for: Cornelia de Lange syndrome.

rs1556886034 in SMC1A gene and Muscle hypotonia PMID 7757074 1995 The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes.

PMID 26386245 2015 Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.

PMID 26354354 2015 Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.

PMID 28548707 2017 Phenotypes and genotypes in individuals with SMC1A variants.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 22106055 2012 In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.

PMID 23106691 2012 Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.

PMID 28102598 2017 Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.

PMID 26752331 2016 De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.

PMID 25537356 2015 Clinical utility gene card for: Cornelia de Lange syndrome.

PMID 26358754 2015 Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

PMID 17221863 2007 Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

PMID 19842212 2010 Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.

PMID 20635401 2010 Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.

PMID 16604071 2006 X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

PMID 17273969 2007 Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.