Individual #00001946

Reference Minassian BA1, Ianzano L, Meloche M, Andermann E, Rouleau GA, Delgado-Escueta AV, Scherer SW.(2000)
Ethnic origin -
Remarks -
Panel size 1
Diseases LD
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     
0000001946 ? ? EPM2A 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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AscendingDNA change (genomic) (hg19)     

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6 Unknown ./. g.145956518G>A Minassian BA1, Ianzano L, Meloche M, Andermann E, Rouleau GA, Delgado-Escueta AV, Scherer SW.(2000) EPM2A_000012 - Y Yang EPM2A 3 NM_005670.3:c.581C>T r.(?) p.(Thr194Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
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