Individual #00002281

Reference Hahn S1, Cho K, Ryu K, Kim J, Pai K, Kim M, Park H, Yoo O.(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


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000002281 ? ? ATP7A 1 Y Yang



Variants

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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

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DNA change (cDNA)     

RNA change     

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Variant/VariO/DNA     

Variant/VariO/protein     
X Unknown ./. g.77266739G>T Hahn S1, Cho K, Ryu K, Kim J, Pai K, Kim M, Park H, Yoo O.(2001) ATP7A_000058 - Y Yang ATP7A 8 NM_000052.6:c.1936G>T r.? p.(Arg646*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation
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