TUBB4A Chromosome 19

Tubulin beta 4A class IVa
50 variants 50 Health Risk

Upload your DNA to see your personal genotypes for variants in TUBB4A.

What This Gene Does
This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]
Gene Info
Gene Group
Tubulin beta family
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000104833
Associated Conditions (12)
Torsion dystonia 4
Hypomyelinating leukodystrophy 6
Inborn genetic diseases
TUBB4A-related disorder
TUBB4A-related neurologic disorder
6 conditions
Leukodystrophy
Abnormality of the nervous system
Cerebral palsy
Global developmental delay
Microcephaly
Auditory neuropathy spectrum disorder
Key Variants
RS1064797231
Conflicting classifications of pathogenicity
Torsion dystonia 4, Torsion dystonia 4
Health Risk
RS146906606
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 6, Torsion dystonia 4, Hypomyelinating leukodystrophy 6
Health Risk
RS149903666
Conflicting classifications of pathogenicity
Torsion dystonia 4, Hypomyelinating leukodystrophy 6, Torsion dystonia 4
Health Risk
RS1555754185
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1568409639
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
Health Risk
RS2145244734
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 6, Inborn genetic diseases, Hypomyelinating leukodystrophy 6
Health Risk
RS2145245505
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
Health Risk
RS2512754463
Conflicting classifications of pathogenicity
Health Risk
RS2512754738
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
Health Risk
RS751733505
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
Health Risk
RS761298089
Conflicting classifications of pathogenicity
Health Risk
RS768924966
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 6, Inborn genetic diseases, TUBB4A-related disorder
Health Risk
All Variants (50)
RSID Category Clinical Significance Conditions
RS1064797231 Health Risk Conflicting classifications of pathogenicity Torsion dystonia 4, Torsion dystonia 4
RS146906606 Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 6, Torsion dystonia 4, Hypomyelinating leukodystrophy 6
RS149903666 Health Risk Conflicting classifications of pathogenicity Torsion dystonia 4, Hypomyelinating leukodystrophy 6, Torsion dystonia 4
RS1555754185 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1568409639 Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS2145244734 Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 6, Inborn genetic diseases, Hypomyelinating leukodystrophy 6
RS2145245505 Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS2512754463 Health Risk Conflicting classifications of pathogenicity —
RS2512754738 Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS751733505 Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS761298089 Health Risk Conflicting classifications of pathogenicity —
RS768924966 Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 6, Inborn genetic diseases, TUBB4A-related disorder
RS774127285 Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS886041020 Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS886041021 Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 6, Torsion dystonia 4, TUBB4A-related neurologic disorder
RS1255699601 Health Risk Likely pathogenic —
RS1568409626 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS1599405952 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS1914081211 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1914085591 Health Risk Likely pathogenic —
RS1914101190 Health Risk Likely pathogenic —
RS1914104455 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS1914525410 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS2145244590 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS2512754593 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS552079378 Health Risk Likely pathogenic Torsion dystonia 4, Torsion dystonia 4
RS748787734 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS886041008 Health Risk Likely pathogenic Torsion dystonia 4, Hypomyelinating leukodystrophy 6, Torsion dystonia 4
RS886041011 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS886041015 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS886041018 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS886041019 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS886041022 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 6, Torsion dystonia 4, Hypomyelinating leukodystrophy 6
RS1057517986 Health Risk Pathogenic —
RS2512753517 Health Risk Pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS587776983 Health Risk Pathogenic Torsion dystonia 4, Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS587777467 Health Risk Pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS587777468 Health Risk Pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6, Torsion dystonia 4
RS797045074 Health Risk Pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6, 6 conditions
RS886041007 Health Risk Pathogenic Hypomyelinating leukodystrophy 6, Leukodystrophy, Hypomyelinating leukodystrophy 6
RS886041010 Health Risk Pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS1131691696 Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 6, Torsion dystonia 4, Hypomyelinating leukodystrophy 6
RS2512753619 Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS483352809 Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 6, Torsion dystonia 4, Abnormality of the nervous system
RS587777428 Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 6, Torsion dystonia 4, Cerebral palsy
RS587777429 Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 6, Inborn genetic diseases, TUBB4A-related disorder
RS761635539 Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS767399782 Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 6, Cerebral palsy, Microcephaly
RS886039470 Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 6, Inborn genetic diseases, Auditory neuropathy spectrum disorder
RS886041013 Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
Sign Up to Analyze Your DNA Log In