rs886041013
This is a variant in the TUBB4A gene that changes a alanine to an valine.
▶ClinVar annotation
About TUBB4A
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]
View all TUBB4A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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