Individual #00001249

Reference Ellie E1, Camou F, Vital A, Rummens C, Grateau G, Delpech M, Valleix S.(2001)
Ethnic origin -
Remarks -
Panel size 1
Diseases FAN
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     
0000001249 ? ? TTR 1 Y Yang



Variants

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Chr     

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AscendingDNA change (genomic) (hg19)     

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18 Unknown ./. g.29175100G>A Ellie E1, Camou F, Vital A, Rummens C, Grateau G, Delpech M, Valleix S.(2001) TTR_000045 - Y Yang TTR 3 NM_000371.3:c.218G>A r.(?) p.(Gly73Glu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
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