rs1048755

This variant is located in the ATXN3 gene.

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ClinVar annotation

Benign★☆☆☆

3 submitters1 publication

not specified; not provided; Malignant lymphoma, large B-cell, diffuse; Squamous cell carcinoma of the head and neck

About ATXN3

Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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