Variant: rs63750092 

    present in Gene: MAPT
    present in Chromosome: 17
    Position on Chromosome: 46014277
    Alleles of this Variant: A/T

rs63750092 in MAPT gene and Frontotemporal dementia PMID 11921059 2002 Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation.

PMID 9736786 1998 Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.

PMID 9641683 1998 Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.

PMID 12509859 2003 A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.

PMID 16240366 2005 Phenotypic heterogeneity within a new family with the MAPT p301s mutation.

PMID 12473774 2002 Clinical and genetic studies of families with the tau N279K mutation (FTDP-17).

PMID 11889249 2002 Early-onset, rapidly progressive familial tauopathy with R406W mutation.

PMID 15883319 2005 A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease.

PMID 11585254 2001 Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells.

PMID 10214944 1999 Accelerated filament formation from tau protein with specific FTDP-17 missense mutations.

PMID 14517953 2003 Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe.

PMID 10374757 1999 Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.

PMID 10208578 1999 A distinct familial presenile dementia with a novel missense mutation in the tau gene.

PMID 11906000 2002 Functional effects of tau gene mutations deltaN296 and N296H.

PMID 10802785 2000 Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene.

PMID 11071507 2000 A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation.

PMID 10489057 1999 A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration.

PMID 11117541 2000 Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation.

PMID 11278002 2001 Effects of FTDP-17 mutations on the in vitro phosphorylation of tau by glycogen synthase kinase 3beta identified by mass spectrometry demonstrate certain mutations exert long-range conformational changes.

PMID 10553987 1999 FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation.