Individual #00001976

Reference Trujillo-Tiebas MJ1, Fenollar-Cortés M, Gómez-Garré P, Lorda-Sánchez I, Serratosa JM, Ayuso García C.(2007)
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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0000001976 ? ? EPM2A 1 Y Yang



Variants

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AscendingDNA change (genomic) (hg19)     

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6 Unknown ./. g.145948811G>C Trujillo-Tiebas MJ1, Fenollar-Cortés M, Gómez-Garré P, Lorda-Sánchez I, Serratosa JM, Ayuso García C.(2007) EPM2A_000045 - Y Yang EPM2A 4 NM_005670.3:c.737C>G r.(?) p.(Pro246Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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