Variant: rs119476046 

    present in Gene: ATL1
    present in Chromosome: 14
    Position on Chromosome: 50613343
    Alleles of this Variant: C/T

rs119476046 in ATL1 gene and NEUROPATHY, HEREDITARY SENSORY, TYPE ID PMID 23079343 2013 Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking.

PMID 20947813 2010 Clinical and genetic analysis of a Korean family with hereditary spastic paraplegia type 3.

PMID 24482476 2014 Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

PMID 25761634 2015 ER network formation and membrane fusion by atlastin1/SPG3A disease variants.

PMID 25637064 2015 De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling.

PMID 11685207 2001 Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.

PMID 20816793 2011 The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1.

PMID 23233086 2013 SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism.

rs119476046 in ATL1 gene and Spastic paraplegia 3, autosomal dominant PMID 17321752 2007 Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis.

PMID 14607301 2003 SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia.

PMID 20816793 2011 The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1.

PMID 20718791 2011 Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.

PMID 16537571 2006 SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development.

PMID 25637064 2015 De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling.

PMID 20947813 2010 Clinical and genetic analysis of a Korean family with hereditary spastic paraplegia type 3.

PMID 20932283 2010 Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

PMID 25761634 2015 ER network formation and membrane fusion by atlastin1/SPG3A disease variants.

PMID 19652243 2009 Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family.

PMID 24482476 2014 Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

PMID 23079343 2013 Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking.

PMID 11685207 2001 Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.

PMID 23233086 2013 SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism.

PMID 15517445 2004 Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A.