All variants in the ATXN3 gene

Information The variants shown are described using the NM_004993.5 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. - c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG - r.(?) p.(Gln296_Gln305dup) - benign g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ATXN3(NM_004993.6):c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG (p.Q296_Q305dup) - ATXN3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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