Variant: rs767350733 

    present in Gene: ALS2
    present in Chromosome: 2
    Position on Chromosome: 201724392
    Alleles of this Variant: G/A

rs767350733 in ALS2 gene and Muscle hypotonia PMID 12145748 2002 Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.

PMID 12601111 2003 Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families.

PMID 11586297 2001 The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.

PMID 27159321 2016 Whole exome sequencing in patients with white matter abnormalities.

PMID 24562058 2014 ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.

PMID 1606479 1992 Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

rs767350733 in ALS2 gene and Overgrowth PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 27159321 2016 Whole exome sequencing in patients with white matter abnormalities.

PMID 24562058 2014 ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.

PMID 12145748 2002 Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.

PMID 1606479 1992 Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria.

PMID 12601111 2003 Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families.

PMID 11586297 2001 The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.