Variant: rs1225746517 

    present in Gene: SQSTM1
    present in Chromosome: 5
    Position on Chromosome: 179825166
    Alleles of this Variant: C/A;T

rs1225746517 in SQSTM1 gene and FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 PMID 25114083 2015 A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation.

PMID 24899140 2014 Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.

PMID 24042580 2013 SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.

PMID 22084127 2011 SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.