TUBB3, tubulin beta 3 class III, 10381

N. diseases: 259; N. variants: 25
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878853256
rs878853256
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		0.800 GeneticVariation UNIPROT Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. 20829227 2010
dbSNP: rs878853256
rs878853256
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C3808397
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		G 0.800 CausalMutation CLINVAR