Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs367543041
rs367543041
TARDBP
0.090 GeneticVariation BEFREE We previously developed a mouse model of ALS that exhibits adult-onset motor dysfunction; these mutant TDP-43 knock in (KI) mice heterozygously express mutant human TDP-43 (A382T or G348C). 26672899

2016
dbSNP: rs367543041
rs367543041
TARDBP
0.090 GeneticVariation BEFREE Based on our previous finding of the p.A382T founder mutation in ALS patients with concomitant parkinsonism in the Sardinian population, we hypothesized that the same variant may underlie Parkinson's disease (PD) and/or other forms of degenerative parkinsonism on this Mediterranean island. 23546887

2013
dbSNP: rs367543041
rs367543041
TARDBP
0.090 GeneticVariation BEFREE High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis. 21418058

2012
dbSNP: rs367543041
rs367543041
TARDBP
0.090 GeneticVariation BEFREE Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject. 22398199

2012
dbSNP: rs367543041
rs367543041
TARDBP
0.090 GeneticVariation BEFREE A founder TARDBP mutation (p.Ala382Thr) was recently identified as the cause of ~30% of ALS cases in Sardinia, a Mediterranean genetic isolate. 21667065

2011
dbSNP: rs367543041
rs367543041
TARDBP
0.090 GeneticVariation BEFREE In that report, we identified a 53-year-old man carrying a homozygous A382T missense mutation of the TARDBP gene with a complex neurological syndrome including amyotrophic lateral sclerosis, parkinsonian features, motor and vocal tics, and frontotemporal dementia (FTD). 21803454

2011
dbSNP: rs367543041
rs367543041
TARDBP
0.090 GeneticVariation BEFREE The TARDBP p.A382T missense mutation accounts for approximately one-third of all ALS cases in this island population. 21220647

2011
dbSNP: rs367543041
rs367543041
TARDBP
0.090 GeneticVariation BEFREE Three apparently unrelated families with familial ALS carrying the p.Ala382Thr TARDBP missense mutation developed FTLD. 20697052

2010
dbSNP: rs367543041
rs367543041
TARDBP
0.090 GeneticVariation BEFREE The c.1144G>A (p.A382T) variation was observed in seven patients, thus representing the most frequent TARDBP mutation in ALS. 19224587

2009