MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Neurodegenerative Disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750869
rs63750869
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0524851
Disease:
Neurodegenerative Disorders 		0.010 GeneticVariation BEFREE The microtubule-associated protein tau V363I variation could be considered either an incomplete penetrant mutation or a rare polymorphism; although its pathogenicity has yet to be clearly demonstrated, modifier genetic factors seem to contribute to the pathogenic effects observed in the patient underlining the great complexity existing in neurodegenerative diseases and questioning so-called sporadic cases that can potentially be caused by gene mutation. 21343707 2011