Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750756
rs63750756
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		G 0.900 CausalMutation CLINVAR GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil. 27082848

2017
dbSNP: rs63750756
rs63750756
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		G 0.900 CausalMutation CLINVAR Early maturation and distinct tau pathology in induced pluripotent stem cell-derived neurons from patients with MAPT mutations. 26220942

2015
dbSNP: rs63750756
rs63750756
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		G 0.900 CausalMutation CLINVAR Consistently, the levels of intracellular/luminal vesicle and exosome marker flotillin-1 were significantly increased in frontal and temporal cortices of PPND/FTDP-17 patients with the N279K tau mutation, events that were not seen in the occipital cortex which is the most spared cortical region in the patients. 26373282

2015
dbSNP: rs63750756
rs63750756
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		G 0.900 CausalMutation CLINVAR Distinct Neurodegenerative Changes in an Induced Pluripotent Stem Cell Model of Frontotemporal Dementia Linked to Mutant TAU Protein. 26143746

2015
dbSNP: rs63750756
rs63750756
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		G 0.900 CausalMutation CLINVAR Correction of tau mis-splicing caused by FTDP-17 MAPT mutations by spliceosome-mediated RNA trans-splicing. 19498037

2009
dbSNP: rs63750756
rs63750756
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		G 0.900 CausalMutation CLINVAR The tau N279K exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model. 17715352

2007
dbSNP: rs63750756
rs63750756
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		G 0.900 CausalMutation CLINVAR Transgenic mice expressing mutant (N279K) human tau show mutation dependent cognitive deficits without neurofibrillary tangle formation. 16219306

2005
dbSNP: rs63750756
rs63750756
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		G 0.900 CausalMutation CLINVAR A case of dementia parkinsonism resembling progressive supranuclear palsy due to mutation in the tau protein gene. 14568818

2003
dbSNP: rs63750756
rs63750756
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		G 0.900 CausalMutation CLINVAR A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration. 10489057

1999
dbSNP: rs63750756
rs63750756
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		G 0.900 CausalMutation CLINVAR A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy. 10412802

1999