Individual #00001964

Reference Ianzano L1, Young EJ, Zhao XC, Chan EM, Rodriguez MT, Torrado MV, Scherer SW, Minassian BA.(2004)
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


AscendingScreening ID     

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Owner     
0000001964 ? ? EPM2A 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

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AscendingDNA change (genomic) (hg19)     

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6 Unknown ./. g.145956605C>T Ianzano L1, Young EJ, Zhao XC, Chan EM, Rodriguez MT, Torrado MV, Scherer SW, Minassian BA.(2004) EPM2A_000036 - Y Yang EPM2A 3 NM_005670.3:c.494G>A r.(?) p.(Trp165*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0015 protein truncation
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