Variant: rs116128702 

    present in Gene: DNAH5
    present in Chromosome: 5
    Position on Chromosome: 13923369
    Alleles of this Variant: C/A;G;T

rs116128702 in DNAH5 gene and Dysmorphic features PMID 19357118 2009 Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

PMID 12615011 2003 Lateralization defects and ciliary dyskinesia: lessons from algae.

PMID 16627867 2006 DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 11788826 2002 Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

PMID 23261302 2013 Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

rs116128702 in DNAH5 gene and Multiple congenital anomalies PMID 23261302 2013 Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 19357118 2009 Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

PMID 11788826 2002 Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

PMID 12615011 2003 Lateralization defects and ciliary dyskinesia: lessons from algae.

PMID 16627867 2006 DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

rs116128702 in DNAH5 gene and Muscle hypotonia PMID 12615011 2003 Lateralization defects and ciliary dyskinesia: lessons from algae.

PMID 11788826 2002 Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

PMID 19357118 2009 Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 23261302 2013 Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

PMID 16627867 2006 DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.