Full data view for gene SPTBN2

Information The variants shown are described using the NM_006946.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Ethnic origin     

Remarks     

Panel size     

Owner     
./. 7 c.758T>C r.(?) p.(Leu253Pro) Unknown g.66481116A>G Clarkson YL et al. (2010) SPTBN2_000001 - ? ? SCA Clarkson YL et al. (2010) - - 1 XY Liu
./. 12 c.1415C>T r.(?) p.(Thr472Met) Unknown g.66475225G>A Cho E et al. (2013) SPTBN2_000002 - ? ? SCA Cho E et al. (2013) - - 1 XY Liu
./. 12 c.1438C>T r.(?) p.(Arg480Trp) Unknown g.66475202G>A Jacob FD et al. (2013) SPTBN2_000003 - ? ? SCA Jacob FD et al. (2013) - - 1 XY Liu
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