Variant: rs397515417 

    present in Gene: HDAC8
    present in Chromosome: X
    Position on Chromosome: 72462077
    Alleles of this Variant: G/A

rs397515417 in HDAC8 gene and CORNELIA DE LANGE SYNDROME 5 PMID 30158690 2019 Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

PMID 22885700 2012 HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.

rs397515417 in HDAC8 gene and Dysmorphic features PMID 24038889 2013 Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.

PMID 24718998 2014 Autism traits in children and adolescents with Cornelia de Lange syndrome.

PMID 15146186 2004 Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.

PMID 25209348 2015 Cornelia de Lange syndrome.

PMID 17640042 2007 Natural history of aging in Cornelia de Lange syndrome.

PMID 22889856 2012 X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.

PMID 24403048 2014 Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

PMID 15146185 2004 NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.

PMID 26671848 2016 Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.

PMID 19886810 2009 Cohesin: its roles and mechanisms.

PMID 22885700 2012 HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.

rs397515417 in HDAC8 gene and Muscle hypotonia PMID 22885700 2012 HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.

PMID 24718998 2014 Autism traits in children and adolescents with Cornelia de Lange syndrome.

PMID 25209348 2015 Cornelia de Lange syndrome.

PMID 24038889 2013 Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.

PMID 26671848 2016 Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.

PMID 17640042 2007 Natural history of aging in Cornelia de Lange syndrome.

PMID 19886810 2009 Cohesin: its roles and mechanisms.

PMID 15146186 2004 Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.

PMID 22889856 2012 X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.

PMID 24403048 2014 Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

PMID 15146185 2004 NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.