Individual #00000322



Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000322 ? ? PSEN2 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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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     
1 Unknown ./. g.227073304A>T Ryman DC1, Acosta-Baena N2, Aisen PS2, Bird T2, Danek A2, Fox NC2, Goate A2, Frommelt P2, Ghetti B2, Langbaum JB2, Lopera F2, Martins R2, Masters CL2, Mayeux RP2, McDade E2(2014) PSEN2_000005 - Y Yang PSEN2 6 NM_000447.2:c.422A>T r.(?) p.(Asn141Ile) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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