Individual #00002304

Reference M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005)
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


AscendingScreening ID     

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Variants found     

Owner     
0000002304 ? ? ATP7A 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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X Unknown ./. g.77271370T>G M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) ATP7A_000078 - Y Yang ATP7A 12 NM_000052.6:c.2618T>G r.(?) p.(Leu873Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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