Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751273
rs63751273
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		T 0.900 CausalMutation CLINVAR Hyperactivity with Agitative-Like Behavior in a Mouse Tauopathy Model. 26519432

2016
dbSNP: rs63751273
rs63751273
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		T 0.900 CausalMutation CLINVAR We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient. 27439681

2016
dbSNP: rs63751273
rs63751273
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		T 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: rs63751273
rs63751273
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		T 0.900 CausalMutation CLINVAR The Human Tau Interactome: Binding to the Ribonucleoproteome, and Impaired Binding of the Proline-to-Leucine Mutant at Position 301 (P301L) to Chaperones and the Proteasome. 26269332

2015
dbSNP: rs63751273
rs63751273
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		T 0.900 CausalMutation CLINVAR Investigating degeneration of the retina in young and aged tau P301L mice. 25592136

2015
dbSNP: rs63751273
rs63751273
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		T 0.900 CausalMutation CLINVAR Genotype-specific differences between mouse CNS stem cell lines expressing frontotemporal dementia mutant or wild type human tau. 22723997

2012
dbSNP: rs63751273
rs63751273
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		T 0.900 CausalMutation CLINVAR Age-related impairment of ultrasonic vocalization in Tau.P301L mice: possible implication for progressive language disorders. 22022446

2011
dbSNP: rs63751273
rs63751273
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		T 0.900 CausalMutation CLINVAR Functional characterization of FTDP-17 tau gene mutations through their effects on Xenopus oocyte maturation. 11756436

2002
dbSNP: rs63751273
rs63751273
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		T 0.900 CausalMutation CLINVAR Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. 9641683

1998