TUBB4A, tubulin beta 4A class IVa, 10382

N. diseases: 107; N. variants: 29
Disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs483352809
rs483352809
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C1851943
Disease:
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder) 		0.010 GeneticVariation BEFREE We present a study of the cellular effects of TUBB4A mutations responsible for H-ABC (p.Asp249Asn), DYT4 (p.Arg2Gly), a severe combined phenotype with hypomyelination and encephalopathy (p.Asn414Lys), as well as milder phenotypes causing isolated hypomyelination (p.Val255Ile and p.Arg282Pro). 28973395 2017