Variant: rs1064795935 

    present in Gene: COL4A1
    present in Chromosome: 13
    Position on Chromosome: 110181389
    Alleles of this Variant: C/T

rs1064795935 in COL4A1 gene and Dysmorphic features PMID 15905400 2005 Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

PMID 19194877 2009 COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.

PMID 16374828 2006 Neonatal porencephaly and adult stroke related to mutations in collagen IV A1.

PMID 12525718 2003 Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy.

PMID 18160688 2007 COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.

PMID 22574627 2012 Childhood presentation of COL4A1 mutations.

PMID 15882279 2005 Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome.

PMID 17696175 2007 COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.

PMID 21625620 2011 COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.

PMID 16107487 2006 Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.

PMID 17938367 2007 Clinical and brain MRI follow-up study of a family with COL4A1 mutation.

PMID 23065703 2013 Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.

PMID 19949034 2009 Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.

PMID 23394911 2013 Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.

PMID 16598045 2006 Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

PMID 19840616 2009 COL4A1 mutation in preterm intraventricular hemorrhage.

PMID 6428250 1984 Familial porencephalic white matter disease in two generations.

PMID 26220970 2015 High-throughput genetic characterization of a cohort of Brugada syndrome patients.

rs1064795935 in COL4A1 gene and Movement Disorders PMID 19840616 2009 COL4A1 mutation in preterm intraventricular hemorrhage.

PMID 21625620 2011 COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.

PMID 12525718 2003 Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy.

PMID 16598045 2006 Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

PMID 19194877 2009 COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.

PMID 26220970 2015 High-throughput genetic characterization of a cohort of Brugada syndrome patients.

PMID 22574627 2012 Childhood presentation of COL4A1 mutations.

PMID 16107487 2006 Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.

PMID 16374828 2006 Neonatal porencephaly and adult stroke related to mutations in collagen IV A1.

PMID 17938367 2007 Clinical and brain MRI follow-up study of a family with COL4A1 mutation.

PMID 15882279 2005 Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome.

PMID 17696175 2007 COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.

PMID 6428250 1984 Familial porencephalic white matter disease in two generations.

PMID 18160688 2007 COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.

PMID 23394911 2013 Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.

PMID 15905400 2005 Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

PMID 23065703 2013 Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.

PMID 19949034 2009 Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.

rs1064795935 in COL4A1 gene and Muscle hypotonia PMID 21625620 2011 COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.

PMID 22574627 2012 Childhood presentation of COL4A1 mutations.

PMID 19194877 2009 COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.

PMID 16598045 2006 Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

PMID 17696175 2007 COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.

PMID 19840616 2009 COL4A1 mutation in preterm intraventricular hemorrhage.

PMID 16374828 2006 Neonatal porencephaly and adult stroke related to mutations in collagen IV A1.

PMID 17938367 2007 Clinical and brain MRI follow-up study of a family with COL4A1 mutation.

PMID 18160688 2007 COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.

PMID 12525718 2003 Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy.

PMID 16107487 2006 Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.

PMID 15882279 2005 Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome.

PMID 15905400 2005 Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

PMID 19949034 2009 Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.

PMID 23065703 2013 Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.

PMID 6428250 1984 Familial porencephalic white matter disease in two generations.

PMID 23394911 2013 Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.

PMID 26220970 2015 High-throughput genetic characterization of a cohort of Brugada syndrome patients.