TUBB3, tubulin beta 3 class III, 10381

N. diseases: 259; N. variants: 25
Disease: Congenital Fibrosis of the Extraocular Muscles ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607165
rs267607165
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C1302995
Disease:
Congenital Fibrosis of the Extraocular Muscles 		0.010 GeneticVariation BEFREE A de novo TUBB3 c.1228G>A mutation arose in a female proband who displayed CFEOM, facial weakness, intellectual and social disabilities, and anosmia. 25559402 2015
dbSNP: rs386794162
rs386794162
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C1302995
Disease:
Congenital Fibrosis of the Extraocular Muscles 		0.010 GeneticVariation BEFREE We have identified a novel inherited heterozygous missense mutation in TUBB2B that results in an E421K amino acid substitution in a family who segregates congenital fibrosis of the extraocular muscles (CFEOM) with polymicrogyria. 23001566 2012