Full data view for gene SQSTM1

Information The variants shown are described using the NM_003900.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Ethnic origin     

Remarks     

Panel size     

Owner     
./. 8 c.1316C>T r.(?) p.(Pro439Leu) - - Unknown g.179263586C>T Luis E et al. (2016) SQSTM1_000029 - ? ? FTLD Luis E et al. (2016) - - 1 XY Liu
?/. 8 c.1316C>T r.(?) p.(Pro439Leu) - - Unknown g.179263586C>T Makito Hirano, Yusaku Nakamura, Kazumasa Saigoh, et al. (2013) SQSTM1_000029 - ? ? ALS Makito Hirano, Yusaku Nakamura, Kazumasa Saigoh, et al. (2013) Japanese - 1 XY Liu
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