Individual #00001876

Reference Jansen GA1, Hogenhout EM, Ferdinandusse S, Waterham HR, Ofman R, Jakobs C, Skjeldal OH, Wanders RJ.(2000)
Ethnic origin -
Remarks -
Panel size 1
Diseases HMSN
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     
0000001876 ? ? PHYH 1 Y Yang



Variants

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Chr     

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AscendingDNA change (genomic) (hg19)     

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10 Unknown ./. g.13330511T>A Jansen GA1, Hogenhout EM, Ferdinandusse S, Waterham HR, Ofman R, Jakobs C, Skjeldal OH, Wanders RJ.(2000) PHYH_000016 - Y Yang PHYH 6 NM_006214.3:c.527A>T r.(?) p.(Gln176Leu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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