TUBB4A Gene Omnibus

The H-ABC Foundation UK has launched its H-ABC Gene Variant Omnibus Project. We aim to list and track the H-ABC TUBB4A gene variants* that are associated with the H-ABC phenotype and record their frequency. To date 53 TUBB4A variants have been identified among the extant clinical literature and/or voluntarily reported to our patient registry.   The current list of variants can be found below in the pdf document.  

 

We thank volunteer EJ.K. for assembling the H-ABC Gene Variant Omnibus. The list below is the one that stands as most contemporary. As we receive additional data on new mutations we will update the Omnibus.

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