Individual #00002348

Reference Lee JS1, Lim BC1, Kim KJ1, Hwang YS1, Cheon JE2, Kim IO2, Seong MW3, Park SS3, Chae JH4.(2015)
Ethnic origin Korea
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     
0000002348 ? ? 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.77268382G>C Lee JS1, Lim BC1, Kim KJ1, Hwang YS1, Cheon JE2, Kim IO2, Seong MW3, Park SS3, Chae JH4.(2015) ATP7A_000054 - Y Yang ATP7A 10 NM_000052.6:c.2179G>C r.(?) p.(Gly727Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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