TUBB3, tubulin beta 3 class III, 10381

N. diseases: 259; N. variants: 25
Disease: Mixed sensory-motor polyneuropathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607164
rs267607164
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0271682
Disease:
Mixed sensory-motor polyneuropathy 		0.010 GeneticVariation BEFREE In the present study, a TUBB3 D417N mutation was identified in a family with axonal sensorimotor polyneuropathy by whole exome sequencing. 25482575 2015