Variant: rs886039392 

    present in Gene: ITPR1
    present in Chromosome: 3
    Position on Chromosome: 4645678
    Alleles of this Variant: C/T

rs886039392 in ITPR1 gene and Gillespie syndrome PMID 27062503 2017 Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

rs886039392 in ITPR1 gene and Multiple congenital anomalies PMID 28488678 2017 A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.

PMID 21367767 2011 Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features.

PMID 23495097 2013 Levetiracetam-responsive myoclonus in spinocerebellar ataxia type 15.

PMID 27108798 2016 A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

PMID 25574826 2015 CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.

PMID 18579805 2008 Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families.

PMID 25794864 2015 Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.

PMID 11445634 2001 A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1.

PMID 22986007 2012 Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.

PMID 17030759 2006 The contactin 4 gene locus at 3p26 is a candidate gene of SCA16.

PMID 26770814 2016 ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia.

PMID 12611586 2003 Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1.

PMID 17590087 2007 Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.

PMID 14981189 2004 Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus.

rs886039392 in ITPR1 gene and SPINOCEREBELLAR ATAXIA 15 PMID 27062503 2017 Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

rs886039392 in ITPR1 gene and SPINOCEREBELLAR ATAXIA 29 PMID 29925855 2018 De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.

PMID 28659154 2017 Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.

PMID 27062503 2017 Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.