Individual #00000133

Reference Heckmann JM1, Low WC, de Villiers C, Rutherfoord S, Vorster A, Rao H, Morris CM, Ramesar RS, Kalaria RN.(2004)
Ethnic origin -
Remarks -
Panel size 1
Diseases AD
Owner name Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang


Stop! No phenotypes found for this individual!



Screenings


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Owner     
0000000133 ? ? PSEN1 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

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AscendingDNA change (genomic) (hg19)     

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14 Unknown ./. g.73640364T>G Heckmann JM1, Low WC, de Villiers C, Rutherfoord S, Vorster A, Rao H, Morris CM, Ramesar RS, Kalaria RN.(2004) PSEN1_000025 - Y Yang PSEN1 5 NM_000021.3:c.429T>G r.(?) p.(Ile143Met) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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