Variant: rs121434343 

    present in Gene: CHD7
    present in Chromosome: 8
    Position on Chromosome: 60853047
    Alleles of this Variant: G/A

rs121434343 in CHD7 gene and CHARGE Syndrome PMID 15300250 2004 Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

PMID 16400610 2006 Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

PMID 21554267 2012 CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.

PMID 21931733 2011 CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome.

PMID 21407266 2011 Clinical utility gene card for: CHARGE syndrome.

PMID 16763960 2006 CHD7 gene and non-syndromic cleft lip and palate.

PMID 22461308 2012 Mutation update on the CHD7 gene involved in CHARGE syndrome.

PMID 18074359 2008 Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.

PMID 21158681 2010 Mutations in the CHD7 gene: the experience of a commercial laboratory.

PMID 22462537 2013 Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.

PMID 23519317 2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

PMID 25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

PMID 20453063 2010 CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.

PMID 19021638 2009 CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.

PMID 18445044 2008 CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.

rs121434343 in CHD7 gene and HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA PMID 21158681 2010 Mutations in the CHD7 gene: the experience of a commercial laboratory.

PMID 18834967 2008 Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

PMID 25077900 2014 The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.