Individual #00000264



Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000264 ? ? PSEN1 1 Y Yang



Variants

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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
14 Unknown ./. g.73640282C>T Ringman JM1, Goate A, Masters CL, Cairns NJ, Danek A, Graff-Radford N, Ghetti B, Morris JC; Dominantly Inherited Alzheimer Network.(2014) PSEN1_000115 - Y Yang PSEN1 5 NM_000021.3:c.347C>T r.(?) p.(Thr116Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
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