Individual #00001983

Reference Gómez-Garre P1, Sanz Y, Rodríguez De Córdoba SR, Serratosa JM.(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     
0000001983 ? ? 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.146056377G>T Gómez-Garre P1, Sanz Y, Rodríguez De Córdoba SR, Serratosa JM.(2000) EPM2A_000029 - Y Yang EPM2A 1 NM_005670.3:c.258C>A r.(?) p.(Tyr86*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation
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