Variant: rs121908395 

    present in Gene: TARDBP
    present in Chromosome: 1
    Position on Chromosome: 11022278
    Alleles of this Variant: G/C;T

rs121908395 in TARDBP gene and AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) PMID 18309045 2008 TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.

PMID 19350673 2009 TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration.

PMID 19655382 2009 Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease.

PMID 18438952 2008 TDP-43 mutation in familial amyotrophic lateral sclerosis.

PMID 19224587 2009 High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

PMID 18288693 2008 TDP-43 A315T mutation in familial motor neuron disease.

PMID 21418058 2012 High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis.

PMID 18396105 2008 TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis.

PMID 19695877 2009 Genetic variants in the promoter of TARDBP in sporadic amyotrophic lateral sclerosis.

PMID 22456481 2012 Novel TARDBP mutations in Nordic ALS patients.

PMID 18372902 2008 TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.

PMID 20740007 2010 Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.

PMID 21220647 2011 Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.