TUBB4A, tubulin beta 4A class IVa, 10382

N. diseases: 107; N. variants: 29
Disease: Leukodystrophy, Hypomyelinating, 6 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs761635539
rs761635539
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6 		A 0.700 CausalMutation CLINVAR Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia. 25772097 2015