Full data view for gene SQSTM1

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

5 entries on 1 page. Showing entries 1 - 5.
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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.1175C>T r.(?) p.(Pro392Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.179263445C>T Kwok CT1, Morris A1, de Belleroche JS1.(2014) SQSTM1_000007 - ? ? ALS Kwok CT1, Morris A1, de Belleroche JS1.(2014) - - 1 Y Yang
./. 8 c.1175C>T r.(?) p.(Pro392Leu) - - Unknown g.179263445C>T Yang Y et al. (2015) SQSTM1_000007 - ? ? ALS Yang Y et al. (2015) Chinese - 1 XY Liu
./. 8 c.1175C>T r.(?) p.(Pro392Leu) - - Unknown g.179263445C>T Miller L et al. (2015),dbSNP SQSTM1_000007 - ? ? FTLD Miller L et al. (2015) - - 1 XY Liu
./. 8 c.1175C>T r.(?) p.(Pro392Leu) - - Unknown g.179263445C>T Luis E et al. (2016) SQSTM1_000007 - ? ? FTLD Luis E et al. (2016) - - 1 XY Liu
?/. 8 c.1175C>T r.(?) p.(Pro392Leu) - - Unknown g.179263445C>T Xiaolu Liu, et al. (2021) SQSTM1_000007 - ? ? ALS Xiaolu Liu, et al. (2021) Chinese - 1 XY Liu
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