Full data view for gene APP

Information The variants shown are described using the NM_000484.3 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     
./. 16 c.2018C>T r.(?) p.(Ala673Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.27269931G>A Di Fede G1, Catania M, Morbin M, Giaccone G, Moro ML, Ghidoni R, Colombo L, Messa M, Cagnotto A, Romeo M, Stravalaci M, Diomede L, Gobbi M, Salmona M, Tagliavini F.(2012) APP_000018 - ? ? AD Di Fede G1, Catania M, Morbin M, Giaccone G, Moro ML, Ghidoni R, Colombo L, Messa M, Cagnotto A, Romeo M, Stravalaci M, Diomede L, Gobbi M, Salmona M, Tagliavini F.(2012) - - 1 Y Yang
./. 16 c.2018C>T r.(?) p.(Ala673Val) - - Unknown g.27269931G>A Cimini S et al. (2016) APP_000018 - ? ? AD Cimini S et al. (2016) - - 1 XY Liu
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