Individual #00002292

Reference Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001)
Ethnic origin -
Remarks -
Panel size 1
Diseases MK
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     
0000002292 ? ? ATP7A 1 Y Yang



Variants

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Chr     

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AscendingDNA change (genomic) (hg19)     

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X Unknown ./. g.77254098C>A Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001) ATP7A_000069 - Y Yang ATP7A 5 NM_000052.6:c.1460C>A r.? p.(Ser487*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation
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