Individual #00001935

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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0000001935 ? ? 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.146056541A>C Minassian BA1, Ianzano L, Meloche M, Andermann E, Rouleau GA, Delgado-Escueta AV, Scherer SW.(2000) EPM2A_000003 - Y Yang EPM2A 1 NM_005670.3:c.94T>G r.(?) p.(Trp32Gly) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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