Individual #00001708

Reference Suh BC1, Hong YB2, Nakhro K3, Nam SH3, Chung KW3, Choi BO2.(2014)
Ethnic origin -
Remarks -
Panel size 1
Diseases HSAN
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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Owner     
0000001708 ? ? SPTLC1 1 Y Yang



Variants

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Chr     

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AscendingDNA change (genomic) (hg19)     

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9 Unknown ./. g.94809543G>A Suh BC1, Hong YB2, Nakhro K3, Nam SH3, Chung KW3, Choi BO2.(2014) SPTLC1_000004 - Y Yang SPTLC1 11 NM_006415.3:c.992C>T r.(?) p.(Ser331Phe) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
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