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ATXN3L

Synonyms
MJDL
External resources
Summary
This intronless gene may be a pseudogene (PMID:11450850). This gene is similar to the multi-exon gene which encodes ataxin 3 and contains a coding region which could encode a protein similar to ataxin 3. Mutations in the gene encoding ataxin 3 are associated with Machado-Joseph disease.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
826
Likely benign
162
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ATXN3L gene.

Phenotype class
Patients in 3billion (%)

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