Full data view for gene PSEN1

Information The variants shown are described using the NM_000021.3 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     
./. 5 c.417G>T r.(?) p.(Met139Ile) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.73640352G>T Ringman JM1, Goate A, Masters CL, Cairns NJ, Danek A, Graff-Radford N, Ghetti B, Morris JC; Dominantly Inherited Alzheimer Network.(2014) PSEN1_000118 - ? ? AD Ringman JM1, Goate A, Masters CL, Cairns NJ, Danek A, Graff-Radford N, Ghetti B, Morris JC; Dominantly Inherited Alzheimer Network.(2014) - - 1 Y Yang
./. 5 c.417G>T r.(?) p.(Met139Ile) - - Unknown g.73640352G>T Bagyinszky E et al. (2016) PSEN1_000118 - ? ? AD Bagyinszky E et al. (2016) Korean - 1 XY Liu
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